Influence of Congenital Heart Defect Types over Cardiopulmonary Bypass, Aortic Cross-Clamping, and Intensive Care Unit Length of Stay and Their Association with Genetic Factors

Aim: Surgical correction of congenital heart defects (CHD) often requires interruption of blood flow through cardiopulmonary bypass (CPB) and aortic cross-clamping (ACC), for which duration(s) are considered to be prognostic factors, along with intensive care unit (ICU) length of stay (ICULOS). The aim of this study was to evaluate these surgical prognostic factors in pediatric patients with different types of CHD regarding their type of lesion and associated genetic factors. Study Design: Cross-sectional cohort study with 307 pediatric patients. Place and Duration of Study: Pediatric Intensive Care Unit (ICU) of Hospital da Criança Santo Antônio, in Porto Alegre/RS, Brazil, from 2006-2009 (3 years) Methodology: After inclusion criteria, we studied 266 pediatric patients admitted for the first time in a reference cardiac pediatric ICU from Southern Brazil following cardiac surgery. Intraoperative prognostic factors such as duration of CPB, ACC and ICULOS, in addition to dysmorphological and cytogenetic examinations were compiled and analyzed. P-values of <0.05 were considered significant. Results: CPB time was associated to four outflow tract defects (Tetralogy of Fallot [ToF], transposition of the great arteries [TGA], double outlet right ventricle, and truncus arteriosus [TA]), atrioventricular septal defect, and hypoplastic left heart syndrome (HLHS) (P < 0.001). ACC duration was associated with three outflow tract defects (ToF, TGA, and TA) and HLHS (P < 0.001). Moreover, CPB and ACC times showed an association with cyanotic and complex heart defects, as well as prolonged ICULOS (P < 0.001). There was no relationship between these prognostic factors and syndromic aspects or cytogenetic findings. Conclusions: CHD type has an impact over CPB and ACC duration and ICULOS, whereas genetic factors are not associated with those prognostic factors.

Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study

ABSTRACT BACKGROUND: Chromosomal abnormalities (CAs) have been described in patients with secondary amenorrhea (SA). However, studies on this association are scarce. OBJECTIVES: To evaluate the frequency and types of CAs detected by karyotyping in patients with SA. DESIGN AND SETTING: This retrospective study was performed in a reference clinical genetic service in South Brazil. METHODS: Data were obtained from the medical records of patients with SA who were evaluated between 1975 and 2022. Fisher's bicaudate exact test and Student's t-test were used, and P < 0.05 was considered significant. RESULTS: Among 43 patients with SA, 14 (32.6%) had CAs, namely del (Xq) (n = 3), 45,X (n = 2), 46,X,r(X)/45,X (n = 2), 46,XX/45,X (n = 1), 46,X,i(q10)/45,X (n = 1), 47,XXX (n = 1), 46,XX/47,XXX (n = 1), 46,XX/47,XX,+mar (n = 1), 45,XX,trob(13;14)(q10;q10)/46,XXX,trob(13;14)(q10;q10) (n = 1), and 46,XX,t(2;21)(q23;q11.2) (n = 1). Additional findings were observed mostly among patients with CA compared with those without CA (P = 0.0021). No difference in the mean age was observed between the patients with SA with or without CAs (P = 0.268025). CONCLUSIONS: CAs are common among patients with SA, especially those with short stature and additional findings. They are predominantly structural, involve the X chromosome in a mosaic, and are compatible with the Turner syndrome. Patients with SA, even if isolated, may have CAs, particularly del (Xq) and triple X.

Comparison of Cavum Septum Pellucidum Size in Euploid and Aneuploid Fetuses / Comparação do tamanho do cavum septum pellicidium em fetos euploides e aneuploides

Abstract Objective The aim of the present study is to compare the cavum septum pellucidi (CSP) z-score in euploid and aneuploid fetuses and to investigate the performance of the CSP width/length and CSP width/biparietal diameter (BPD) ratios as a diagnostic marker in aneuploidy. Methods A total of 54 patients, 20 aneuploid and 35 euploid fetuses, between 18 and 37 weeks of gestation, were included in this retrospective study. The CSP width z-score was compared between the two groups. Receiver operating characteristic (ROC) curves were calculated for the CSP width/length and CSP width/BPD ratios to predict aneuploidy. Results The median CSP width was 4.8 mm (range, 1.8 to 8.5 mm) in the euploid group, and 5.4 mm (range 3.1 to 8.4 mm) in the aneuploid group. Cavum septum pellucidi width z-score, CSP width/length ratio, and CSP width/BPD ratio were significantly higher in fetuses with aneuploidy than in fetuses with normal karyotype (p= 0.001; p= 0.013; p= 0.028). In the ROC analysis, the CSP width/length ratio had the optimal cutoff value of 0.59, with 72.0% sensitivity and 58.0% specificity, and for the CSP width/BPD ratio, the cutoff value was 0.081 with 83.0% sensitivity and 61.0% specificity for detection of aneuploidy. Conclusion CSP width z-score was found to be increased in aneuploid fetuses. The CSP width /BPD ratio can be used as a new marker for predicting aneuploidy.

Resumo Objetivo: O objetivo do presente estudo é comparar o escore z do cavum septum pellucidi (CSP) em fetos euploides e aneuploides e investigar o desempenho das relações largura/comprimento do CSP e largura do CSP/diâmetro biparietal (BPD) como marcador diagnóstico de aneuploidia. como marcador de diagnóstico de aneuploidia. Métodos: Um total de 54 pacientes, 20 fetos aneuploides e 35 fetos euploides, entre 18 e 37 semanas de gestação, foram incluídos neste estudo retrospectivo. O escore z da largura da CSP foi comparado entre os dois grupos. As curvas ROC (Receiver Operating Characteristic) foram calculadas para as relações largura/comprimento da PEC e largura da PEC/BPD para prever a aneuploidia. Resultados: A largura mediana da CSP foi de 4,8 mm (variação de 1,8 a 8,5 mm) no grupo euploide e de 5,4 mm (variação de 3,1 a 8,4 mm) no grupo aneuploide. O escore z da largura do cavum septum pellucidi, a relação largura/comprimento do CSP e a relação largura do CSP/BPD foram significativamente maiores em fetos com aneuploidia do que em fetos com cariótipo normal (p < 0,001; p < 0,013; p < 0,028). Na análise ROC, a relação largura/comprimento da CSP teve o valor de corte ideal de 0,59, com 72,0% de sensibilidade e 58,0% de especificidade, e para a relação largura da CSP/BPD, o valor de corte foi de 0,081, com 83,0% de sensibilidade e 61,0% de especificidade para a detecção de aneuploidia. Conclusão: Verificou-se que o escore z da largura da CSP estava aumentado em fetos aneuploides. A relação A relação largura da CSP /BPD pode ser usada como um novo marcador para prever a aneuploidia.

First constitutive heterochromatin characterization and Karyotype of white stork Ciconia ciconia (Aves: Ciconiidae) / Primeira caracterização constitutiva de heterocromatina e cariótipo de cegonha-branca Ciconia ciconia (Aves: Ciconiidae)

Abstract The karyotype and constitutive heterochromatin pattern of the white stork Ciconia ciconia samples obtained from Manzala lake, Dimiaat, Egypt was described. Somatic cells of Ciconia ciconia samples have diploid number 2n= 68 chromosomes. Out of 68 chromosomes, 11 pairs including sex chromosomes were macrochromosomes and the remaining pairs were microchromosomes. Of the 11 macrochromosome pairs, no.1, 2, 4 and 5 were submetacentric and pairs no. 6, 7 and 8 were described as metacentric. In addition, the autosome pair no.3 was subtelocentric, while autosome pair no.9 was acrocentric. Also, the sex chromosome Z represents the fourth one in size and it was classified as submetacentric while, W chromosome appeared as medium size and was acrocentric. Furthermore, C-banding pattern (constitutive heterochromatin) revealed variation in their sizes and occurrence between macrochromosomes. Pairs no. 7 and 8 of autosomes exhibited unusual distribution of heterochromatin, where they appeared as entirely heterochromatic. This may be related to the origin of sex chromosomes Z and W. However, there is no sufficient evidence illustrate the appearance of entirely heterochromatic autosomes. Therefore, there is no available cytogenetic literature that describes the C-banding and karyotype of Ciconia Ciconia, so the results herein are important and may assist in cytogenetic study and evolutionary pattern of Ciconiiformes.

Resumo O cariótipo e o padrão constitutivo de heterocromatina das amostras de cegonha-branca Ciconia ciconia obtidas no lago Manzala, Dimiaat, Egito, foram descritos. As células somáticas de amostras de Ciconia ciconia possuem número diploide 2n = 68 cromossomos. Dos 68 cromossomos, 11 pares incluindo cromossomos sexuais eram macrocromossomos e os pares restantes eram microcromossomos. Dos 11 pares de macrocromossomos, os nos 1, 2, 4 e 5 eram submetacêntricos, e os pares nos 6, 7 e 8 foram descritos como metacêntricos. Além disso, o par de autossomos no 3 era subtelocêntrico, enquanto o par de autossomos no 9 era acrocêntrico. Além disso, o cromossomo sexual Z representa o quarto em tamanho e foi classificado como submetacêntrico, enquanto o cromossomo W apareceu como de tamanho médio e acrocêntrico. Além disso, o padrão de bandamento C (heterocromatina constitutiva) revelou variação em seus tamanhos e ocorrência entre macrocromossomos. Pares nos 7 e 8 dos autossomos exibiram distribuição incomum de heterocromatina, onde apareceram como totalmente heterocromáticos. Isso pode estar relacionado à origem dos cromossomos sexuais Z e W. No entanto, não há evidências suficientes para ilustrar o aparecimento de autossomos totalmente heterocromáticos. Portanto, não há literatura citogenética disponível que descreva o bandamento C e o cariótipo de Ciconia ciconia, portanto os resultados aqui apresentados são importantes e podem auxiliar no estudo citogenético e no padrão evolutivo de Ciconiiformes.

Clinical value of different genetic testing methods for detection of true fetal chromosome mosaicism / 中华围产医学杂志

Objective:To investigate the performance of chromosome karyotype, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) in prenatal diagnosis of true fetal chromosome mosaicism. Methods:This retrospective study enrolled 40 women with true fetal chromosome mosaicism from 4 071 singleton pregnant women who were indicated for and underwent amniocentesis or/and cordocentesis in the the First Affiliated Hospital of Sun Yat-sen University from April 2018 to August 2021. The results of chromosome karyotyping, CMA and FISH, the types of chromosomal mosaicism, mosaicism ratio and pregnancy outcomes were analyzed using Chi-square test. Results:(1) The detection rate of true fetal mosaicism was 0.98% (40/4 071). (2) Sex chromosome mosaicism accounted for 42.5% (17/40). Other chromosomal mosaicism involved chromosomes 21, 22, 18, 16, 7, 12, 15, 17 and 20, as well as balanced chromosomal translocation. (3) The detection rate of true fetal mosaicism by chromosome karyotyping was 77.4% (24/31) from amniotic fluid samples and 10/19 from umbilical cord blood samples, while that data by CMA was 76.7% (23/30) and 7/11,respectively. (4) Of the 40 pregnant women with fetal chromosome mosaicism, FISH test was performed on 20 cases (14 cases were verified with both amniotic fluid and umbilical cord blood samples, five with amniotic fluid samples and one with umbilical cord blood sample), and all of the diagnosis of mosaicism were confirmed. For those with mosaicism ratio <30%, the detection rate by FISH was higher than that by CMA among amniotic fluid samples [14/19 vs 43.5% (10/23), χ2=3.88, P=0.049]. (5) Among the 40 pregnant women, five were lost to follow-up; 18 chose to terminate the pregnancy; and 17 continued the pregnancy to delivery. No abnormalities in mental or physical development were reported in the 17 neonates after birth or during on-line follow-up between 6 to 24 months old. Of the 14 pregnant women with mosaicism ratio <30% which confirmed by FISH, eight chose to continue the pregnancy, and no abnormalities in mental development or growth were found in the neonates. Conclusions:In prenatal diagnosis of true fetal choromosome mosaicism, the incidence of sex chromosome mosaicism is the highest. FISH may improve the prenatal diagnosis rate of mosaicism and is more accurate in determining the mosaicism ratio. The combination of FISH, CMA and chromosome karyotyping would significantly improve the detection rate of chromosomal mosaicism and assess the mosaicism ratio more accurately, which is of great value in clinical consultation and evaluation of fetal prognosis.

First constitutive heterochromatin characterization and Karyotype of white stork Ciconia ciconia (Aves: Ciconiidae) / Primeira caracterização constitutiva de heterocromatina e cariótipo de cegonhabranca Ciconia ciconia (Aves: Ciconiidae)

The karyotype and constitutive heterochromatin pattern of the white stork Ciconia ciconia samples obtained from Manzala lake, Dimiaat, Egypt was described. Somatic cells of Ciconia ciconia samples have diploid number 2n= 68 chromosomes. Out of 68 chromosomes, 11 pairs including sex chromosomes were macrochromosomes and the remaining pairs were microchromosomes. Of the 11 macrochromosome pairs, no.1, 2, 4 and 5 were submetacentric and pairs no. 6, 7 and 8 were described as metacentric. In addition, the autosome pair no.3 was subtelocentric, while autosome pair no.9 was acrocentric. Also, the sex chromosome Z represents the fourth one in size and it was classified as submetacentric while, W chromosome appeared as medium size and was acrocentric. Furthermore, C-banding pattern (constitutive heterochromatin) revealed variation in their sizes and occurrence between macrochromosomes. Pairs no. 7 and 8 of autosomes exhibited unusual distribution of heterochromatin, where they appeared as entirely heterochromatic. This may be related to the origin of sex chromosomes Z and W. However, there is no sufficient evidence illustrate the appearance of entirely heterochromatic autosomes. Therefore, there is no available cytogenetic literature that describes the C-banding and karyotype of Ciconia Ciconia, so the results herein are important and may assist in cytogenetic study and evolutionary pattern of Ciconiiformes.

O cariótipo e o padrão constitutivo de heterocromatina das amostras de cegonha-branca Ciconia ciconia obtidas no lago Manzala, Dimiaat, Egito, foram descritos. As células somáticas de amostras de Ciconia ciconia possuem número diploide 2n = 68 cromossomos. Dos 68 cromossomos, 11 pares incluindo cromossomos sexuais eram macrocromossomos e os pares restantes eram microcromossomos. Dos 11 pares de macrocromossomos, os nos 1, 2, 4 e 5 eram submetacêntricos, e os pares nos 6, 7 e 8 foram descritos como metacêntricos. Além disso, o par de autossomos no 3 era subtelocêntrico, enquanto o par de autossomos no 9 era acrocêntrico. Além disso, o cromossomo sexual Z representa o quarto em tamanho e foi classificado como submetacêntrico, enquanto o cromossomo W apareceu como de tamanho médio e acrocêntrico. Além disso, o padrão de bandamento C (heterocromatina constitutiva) revelou variação em seus tamanhos e ocorrência entre macrocromossomos. Pares nºs 7 e 8 dos autossomos exibiram distribuição incomum de heterocromatina, onde apareceram como totalmente heterocromáticos. Isso pode estar relacionado à origem dos cromossomos sexuais Z e W. No entanto, não há evidências suficientes para ilustrar o aparecimento de autossomos totalmente heterocromáticos. Portanto, não há literatura citogenética disponível que descreva o bandamento C e o cariótipo de Ciconia ciconia, portanto os resultados aqui apresentados são importantes e podem auxiliar no estudo citogenético e no padrão evolutivo de Ciconiiformes.

First constitutive heterochromatin characterization and Karyotype of white stork Ciconia ciconia (Aves: Ciconiidae)

Abstract The karyotype and constitutive heterochromatin pattern of the white stork Ciconia ciconia samples obtained from Manzala lake, Dimiaat, Egypt was described. Somatic cells of Ciconia ciconia samples have diploid number 2n= 68 chromosomes. Out of 68 chromosomes, 11 pairs including sex chromosomes were macrochromosomes and the remaining pairs were microchromosomes. Of the 11 macrochromosome pairs, no.1, 2, 4 and 5 were submetacentric and pairs no. 6, 7 and 8 were described as metacentric. In addition, the autosome pair no.3 was subtelocentric, while autosome pair no.9 was acrocentric. Also, the sex chromosome Z represents the fourth one in size and it was classified as submetacentric while, W chromosome appeared as medium size and was acrocentric. Furthermore, C-banding pattern (constitutive heterochromatin) revealed variation in their sizes and occurrence between macrochromosomes. Pairs no. 7 and 8 of autosomes exhibited unusual distribution of heterochromatin, where they appeared as entirely heterochromatic. This may be related to the origin of sex chromosomes Z and W. However, there is no sufficient evidence illustrate the appearance of entirely heterochromatic autosomes. Therefore, there is no available cytogenetic literature that describes the C-banding and karyotype of Ciconia Ciconia, so the results herein are important and may assist in cytogenetic study and evolutionary pattern of Ciconiiformes.

Resumo O cariótipo e o padrão constitutivo de heterocromatina das amostras de cegonha-branca Ciconia ciconia obtidas no lago Manzala, Dimiaat, Egito, foram descritos. As células somáticas de amostras de Ciconia ciconia possuem número diploide 2n = 68 cromossomos. Dos 68 cromossomos, 11 pares incluindo cromossomos sexuais eram macrocromossomos e os pares restantes eram microcromossomos. Dos 11 pares de macrocromossomos, os nos 1, 2, 4 e 5 eram submetacêntricos, e os pares nos 6, 7 e 8 foram descritos como metacêntricos. Além disso, o par de autossomos no 3 era subtelocêntrico, enquanto o par de autossomos no 9 era acrocêntrico. Além disso, o cromossomo sexual Z representa o quarto em tamanho e foi classificado como submetacêntrico, enquanto o cromossomo W apareceu como de tamanho médio e acrocêntrico. Além disso, o padrão de bandamento C (heterocromatina constitutiva) revelou variação em seus tamanhos e ocorrência entre macrocromossomos. Pares nos 7 e 8 dos autossomos exibiram distribuição incomum de heterocromatina, onde apareceram como totalmente heterocromáticos. Isso pode estar relacionado à origem dos cromossomos sexuais Z e W. No entanto, não há evidências suficientes para ilustrar o aparecimento de autossomos totalmente heterocromáticos. Portanto, não há literatura citogenética disponível que descreva o bandamento C e o cariótipo de Ciconia ciconia, portanto os resultados aqui apresentados são importantes e podem auxiliar no estudo citogenético e no padrão evolutivo de Ciconiiformes.

Prenatal Genetic Diagnosis and Origin Analysis of Rare Complete Translocation Trisomy 18 / 中山大学学报(医学科学版)

ObjectiveTo discuss the origin of rare abnormal karyotypes of fetuses with high risk of trisomy 18 revealed by non-invasive prenatal testing （NIPT） and its impact on fertility. MethodsThe cytogenetic and molecular genetic analyses were performed on the abnormal chromosomes of a prenatally diagnosed fetus with rare complete translocation trisomy 18. Using the keywords “translocation trisomy 18” or “trisomy 18 translocation” in both Chinese and English， we searched PubMed， CNKI， SinoMed， WanFang Data， CQ VIP and the Chinese Medicine database. The relevant case series were retrieved and critically appraised. ResultsG-banded karyotype analysis showed that the maternal karyotype was 46，XX，t（9；18）（q31.2；q23） and the fetal karyotype was 47， XN， t （9； 18） （q31.2；q23）mat， +18， which was a rare complete translocation type of trisomy 18. The SNP array revealed the fetus had increased copy number of chromosome 18 and two complete chromosome 18 inherited from the mother with balanced chromosomal translocation. Literature search found two children with complete translocation trisomy 18 reported abroad. Both of them had trisomy 18 phenotype and originated from the balanced translocation between parental chromosome 18 and other chromosomes. ConclusionNIPT gives an effective advance warning of trisomy 18. SNP array not only improves the detection rate of chromosomal abnormalities， but also helps identify the origin. The karyotype is still the gold standard for prenatal diagnosis.

Evaluación citogenética en parejas con esterilidad e infertilidad que concurren al Departamento de Genética del Instituto de Investigaciones en Ciencias de la Salud de la Universidad Nacional de Asunción en el periodo septiembre 2021- febrero 2022

La prevalencia de la infertilidad no posee datos muy exactos y varía en cada región, pero se estima que aproximadamente entre un 10 a 20% de las parejas experimentan algún problema de fertilidad durante su vida reproductiva. Según la Organización Mundial de la Salud (OMS), entre 48 millones de parejas y 186 millones de personas padecen de trastornos reproductivos en todo el mundo. El objetivo de este estudio fue la evaluación citogenética en parejas con esterilidad e infertilidad que concurrieron al Departamento de Genética del Instituto de Investigaciones en Ciencias de la Salud de la Universidad Nacional de Asunción (IICS-UNA) en el periodo septiembre 2021 a febrero 2022. Dicha evaluación citogenética fue realizada en muestras de 19 parejas mediante el análisis microscópico de 30 metafases por paciente. Se identificaron anomalías cromosómicas en algunas parejas estudiadas, se encontraron tres anomalías cromosómicas estructurales y varios polimorfismos o variantes cromosómicas. En el 63% de los individuos estudiados se observó un cariotipo normal, en el 8% alteraciones cromosómicas y en el 29% variantes cromosómicas. De las anomalías cromosómicas encontradas, las deleciones y translocaciones observadas se relacionan con una producción de gametos desequilibrados, dando lugar a abortos espontáneos y a la imposibilidad de concebir; en las parejas con cariotipo normal, se identificaron factores de riesgo como la edad, hábitos tóxicos como el consumo de tabaco, y enfermedades de base.

The prevalence of infertility does not have very exact data and varies in each region, but it is estimated that approximately 10 to 20% of couples experience some fertility problem during their reproductive life. According to the World Health Organization (WHO), between 48 million couples and 186 million people suffer from reproductive disorders worldwide. The objective of this study was the cytogenetic evaluation in couples with sterility and infertility who attended the Genetics Department of the Health Sciences Research Institute of the National University of Asunción (IICS-UNA) from September 2021 to February 2022. The cytogenetic evaluation was carried out in samples from 19 couples, through the microscopic analysis of 30 metaphases per patient. Chromosomal abnormalities were identified in some couples studied, three structural chromosomal abnormalities and several polymorphisms or chromosomal variants were found. A normal karyotype was found in 63% of the couples studied, chromosomal abnormalities in 8%, and chromosomal variants in 29%. Of the chromosomal abnormalities found, the deletions and translocations observed are related to unbalanced gamete production, leading to spontaneous abortions; in couples with a normal karyotype, risk factors such as age, toxic habits such as consumption of tobacco, and underlying diseases were identified.

Cytogenetics of Chilean land plants (Embryophyta): state-of-the-art and prospects / CItogenética de plantas terrestres Chilenas (Embryophyta): estado del arte y perspectivas

ABSTRACT Chile is located in the south-western region of South America along the Pacific Ocean and contributes to the worldwide flora with ca. 6,120 species of Bryophyta, Pteridophyta, Pinophyta, Gnetophyta, and Magnoliophyta (1.9% of worldwide total species), exhibiting high endemism across all plant divisions. Little is known about the genetic diversity of Chilean land plants worldwide, including their cytogenetic and molecular characteristics. In 2012 we published the first state-of-the-art review in Cytogenetics of Chilean Angiosperms. The article gathered 78 publications from 1924 to 2010 accounting for approximately 139 species (2.8% of total Chilean species). The aim of this paper was to review the advances in cytogenetic studies of Chilean land plants, reporting additional cytogenetic data for species of four botanical divisions until 2020. Cytogenetic data were searched in the CPCD (Chilean Plants Cytogenetic Database). In total, we found 180 publications from both Chilean and foreign researchers. To date, cytogenetic data have been reported for 499 Chilean land plant species (8.2% of total) belonging to 244 genera and 117 families. In this context, the 2001-2020 period has been among the most productive regarding publications, with 74 available reports that include 163 additional species. Based on chromosome numbers, angiosperms and bryophytes registered the greatest diversity with 55 and 29 different 2n, respectively; both divisions having the greatest number of studied species. Given the importance of increasing information on Chilean land plants, it is expected that more publications will contribute to the knowledge of their cytogenetic diversity in the near future.

RESUMEN Chile está ubicado en la región suroeste de América del Sur a lo largo del Océano Pacífico y contribuye a la flora mundial con aproximadamente 6.120 especies de Bryophyta, Pteridophyta, Pinophyta, Gnetophyta y Magnoliophyta (1,9% del total de especies en todo el mundo), que presentan un alto endemismo en todas las divisiones de plantas. Poco se conoce sobre la diversidad genética de las plantas terrestres chilenas en todo el mundo, incluidas sus características citogenéticas y moleculares. En 2012 publicamos la primera revisión sobre el estado del arte en Citogenética de Angiospermas Chilenas. El artículo reunió 78 publicaciones desde 1924 hasta 2010, que representan aproximadamente 139 especies (2,8% del total de especies chilenas). El objetivo de este trabajo fue revisar los avances en estudios citogenéticos de plantas terrestres chilenas, reportando datos citogenéticos adicionales para especies de cuatro divisiones botánicas hasta el 2020. Los datos citogenéticos se buscaron en el CPCD (Base de Datos Citogenéticos de Plantas Chilenas). En total, encontramos 180 publicaciones sobre citogenética de plantas terrestres chilenas, con datos citogenéticos para 499 especies (8,2% del total) pertenecientes a 244 géneros y 117 familias. En este contexto, el período 2001-2020 ha sido uno de los más productivos en cuanto a publicaciones, con 74 artículos disponibles que incluyen 163 especies adicionales. Basado en los números cromosómicos, angiospermas y briófitos registran la mayor diversidad, con 55 y 29 2n diferentes, respectivamente; ambas divisiones tienen también el mayor número de especies estudiadas. Dada la importancia de incrementar la información sobre plantas terrestres chilenas, se espera que más publicaciones contribuyan al conocimiento de su diversidad citogenética en un futuro próximo.

Cytogenetic study in sand spiders (Sicariidae) from the brazilian Caatinga: sex chromosome system diversity in closely related species / Estudio citogenético en arañas de arena (Sicariidae) de la Caatinga brasileña: diversidad del sistema de cromosomas sexuales en especies estrechamente relacionadas

ABSTRACT In this study, we investigated the chromosomes of three species of Sicarius spiders from the Brazilian Caatinga, using classical and molecular cytogenetic techniques. Based on the phylogenetic approach, we also discussed about the variation of diploid number, types of sex chromosome system and changes in the localization of ribosomal genes of Scytodoidea. Sicarius are Synspermiata spiders that together with the genera Loxosceles and Hexophthalma constitute the family Sicariidae. In this group, the available cytogenetic data showed a low diploid number range (2n♂=18 to 2n♂=23) and the presence of only multiple sex chromosome systems (X1X2Y and X1X20). Mitotic metaphase cells exhibited 2n♂=16+X1X2Y for Sicarius cariri and S. ornatus, and 2n♂=18+XY for S. tropicus. In these species, silver impregnation revealed nucleolar organizer region (Ag-NOR) on the terminal region of pair 1. In S. ornatus and S. tropicus, the results obtained with fluorescent in situ hybridization (FISH) using 18S rDNA probe were similar to Ag-NOR, however in S. cariri, the ribosomal sites were localized in the terminal region of the X1 sex chromosome. In this work, we presented the first description of a simple sex chromosome system for Sicariidae, helping to understand how the XY sex chromosome system evolved from the X1X2Y system. Additionally, FISH data incongruous with Ag-NOR indicate that the cytogenetic studies in Sicariidae allow investigating the relation between the karyotype evolution and the distribution and the activity of rDNA genes.

RESUMEN En este estudio, investigamos los cromosomas de tres especies de arañas Sicarius de la Caatinga brasileña, utilizando técnicas de citogenética clásica y molecular. Usando un enfoque filogenético, también discutimos la variación del número diploide, los tipos de sistema cromosómico sexual y los cambios en la localización de los genes ribosómicos en Scytodoidea. Los Sicarius son arañas Synspermiata que, junto con los géneros Loxosceles y Hexophthalma, constituyen a la familia Sicariidae. En este grupo, los datos citogenéticos disponibles mostraron un rango de número diploide bajo (2n♂=18 a 2n♂=23) y únicamente la presencia de sistemas de cromosomas sexuales múltiples (X1X2Y y X1X20). Las células mitóticas en metafase mostraron 2n♂=16+X1X2Y para Sicarius cariri y S. ornatus, y 2n♂=18+XY para S. tropicus. En estas especies, la impregnación de plata reveló la región organizadora nucleolar (Ag-NOR) en la región terminal del par 1. En S. ornatus y S. tropicus, los resultados obtenidos con la hibridación in situ fluorescente (FISH) utilizando la sonda de ADNr 18S fueron similares a los de Ag-NOR, sin embargo, en S. cariri los sitios ribosomales se localizaron en la región terminal del cromosoma sexual X1. En este trabajo, presentamos la primera descripción de un sistema cromosómico sexual simple para Sicariidae, ayudando a entender cómo el sistema cromosómico sexual XY evolucionó a partir del sistema X1X2Y. Además, los datos de FISH incongruentes con Ag-NOR indican que los estudios citogenéticos en Sicariidae permiten investigar la relación entre la evolución del cariotipo y la distribución y la actividad de los genes de ADNr.

Chromosomic studies in Zephyranthes citrina baker (Amaryllidaceae), a polyploid ornamental / Estudios cromosómicos en Zephyranthes citrina baker (Amaryllidaceae), un poliploide ornamental

ABSTRACT Zephyranthes citrina is an ornamental American bulbous plant used as an ornamental garden crop for the aesthetic qualities of its yellow perigonium. The objective of this work was to characterize the species by classical chromosome staining and fluorochrome banding. A sporophytic chromosome number of 2n=8x=48 chromosomes was observed, being the karyotypic formula 20 m + 26 sm + 2 st. Satellites were detected in the short arm of metacentric chromosomes 8, 9, 11 and 12, which colocalized with constitutive heterochromatin CMA+/DAPI-/0 bands. The karyotype comprised chromosome pairs with terminal constitutive heterochromatin bands that included satellites and heteromorphic clusters indicating that it is an allooctoploid. These results will be used as a tool for monitoring genetic improvement, in interspecific crosses and its progenies and in biotechnological procedures by in vitro culture.

RESUMEN Zephyranhtes citrina es una planta bulbosa americana, ornamental, utilizada en jardines por las cualidades estéticas de su perigonio amarillo. El objetivo de este trabajo fue caracterizar citogenéticamente la especie con tinción clásica convencional y bandeo cromosómico. Se observó un número cromosómico esporofítico de 2n=8x=48, siendo la fórmula cariotípica 20 m + 26 sm + 2st. Se detectaron satélites en el brazo corto de los cromosomas metacéntricos 8, 9, 11 y 12, que co-localizaron con bandas de heterocromatina constitutiva CMA+/DAPI-. El cariotipo comprendió pares de cromosomas con bandas de heterocromatina constitutivas terminales que incluyeron satélites y grupos heteromórficos que indican que es un alooctoploide. Estos resultados serán usados como herramientas en el monitoreo del mejoramiento genético, en análisis de cruzamientos interespecíficos y progenies y en procedimientos biotecnológicos de cultivo in vitro.

Mosaic Variant of Turner Syndrome

Turner syndrome is the most common chromosomal abnormality leading to gonadal failure and primary amenorrhea. While half of the cases have monosomy of chromosome X, the remaining exhibit mosaicism resulting in wide variation of phenotypic characteristics and clinical manifestations. We present a case of a 24-year-old female with mosaic variant Turner syndrome. The diagnosis was confirmed by karyotype analysis and laparoscopy.

Técnicas de citogenética para el estudio de las leucemias / Cytogenetic techniques for the study of leukemias

Introducción: La leucemia se define como un proceso clonal de células hematopoyéticas, que se origina cuando las células sanguíneas que se producen en la médula ósea, cambian y se multiplican sin control. Esta se caracteriza por su heterogeneidad genética y se explica a través de mecanismos causados por alteraciones cromosómicas utilizados en la práctica clínica diaria como biomarcadores útiles para el diagnóstico, el pronóstico o la predicción de respuesta al tratamiento. Objetivo: Describir las técnicas de citogenética convencional y molecular para el diagnóstico y seguimiento de las leucemias. Métodos: Se realizó una revisión de la literatura en inglés y español, a través del sitio web PubMed y el motor de búsqueda Google Académico, de artículos publicados en los últimos cinco años. Se hizo un análisis y resumen de la bibliografía revisada. Análisis y síntesis de la información: En el transcurso de los años la citogenética ha proporcionado información crucial para el diagnóstico y el pronóstico de las neoplasias hematológicas. Tanto las técnicas de citogenética convencional y molecular, como la hibridación in situ fluorescente, la hibridación in situ fluorescente multicolor, el cariotipo espectral, la hibridación genómica comparada y los microarreglos, participan en el reconocimiento de alteraciones cromosómicas y de genes, así como de interacciones involucradas en el proceso de oncogénesis. Conclusiones: Las técnicas de citogenética contribuyen al diagnóstico, a la estratificación pronóstica y a la aplicación del tratamiento según el tipo o subtipo de leucemia(AU)

Introduction: Leukemia is defined as a clonal process of hematopoietic cells, which occurs when blood cells that are produced in the bone marrow change and multiply uncontrollably. This is characterized by its genetic heterogeneity and is explained through mechanisms caused by chromosomal alterations that are used in daily clinical practice as useful biomarkers for diagnosis, prognosis or prediction of response to treatment. Objective: To describe the conventional and molecular cytogenetic techniques used for the diagnosis and monitoring of leukemias. Methods: A review of the literature in English and in Spanish was carried out, in the PubMed website and using the search engine Google, for articles published in the last five years. We performed analysis and summary of the reviewed bibliography. Analysis and synthesis of information: Cytogenetics over the years has provided crucial information for the diagnosis and prognosis of hematologic malignancies. Both conventional and molecular cytogenetic techniques such as fluorescent in situ hybridization, multicolor fluorescent in situ hybridization, spectral karyotype, comparative genomic hybridization and microarrays, participate in the recognition of chromosomal and gene alterations, as well as interactions involved in the oncogenesis process. Conclusions: These cytogenetic techniques contribute to the diagnosis, prognostic stratification and application of treatment according to the type or subtype of leukemia(AU)

Research Advances in Multiple Myeloma with Chromosome 1q21 Amplification / 中国实验血液学杂志

Multiple myeloma (MM) is a kind of hematologic malignancy occurring in plasma cells. Cytogenetic technique plays an important role in risk stratification of MM. 1q21 amplification is one of the common chromosomal abnormalities in MM. Studies have shown that 1q21 amplification is associated with poor prognosis in MM patients. At present, with the development of new drugs, cellular immunotherapy, and improvement of hematopoietic stem cell transplantation technology, the remission depth and survival time of MM significantly increased. Rapid and accurate identification of high-risk patients and individualized treatment according to the patient's condition is the key to improve the therapeutic effect of MM. This article reviews the mechanism of 1q21 amplification in MM and the efficacy of new drugs in the treatment of MM with 1q21 chromosome amplification.

The Genetic and Prognostic Characteristics of AML-MRC Patients / 中国实验血液学杂志

OBJECTIVE@#To investigate the genetic and prognostic characteristics of acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) patients.@*METHODS@#There were 230 non-M3 AML patients treated in Ningbo First Hospital enrolled, among which 58 patients were newly diagnosed AML-MRC, the patients were followed up and SPSS 25.0 was used to statistically analyze.@*RESULTS@#There were 49 patients performed genetic testing, 29 patients (59.2%) showed chromosomal abnormalities, including 7q- 8 cases (16.3%), 5q- 6 cases (12.2%), 5 cases (10.2%) of 17p abnormalities, 13 cases (26.5%) of highly abnormal complex karyotypes (CK) (≥5 unrelated chromosomal abnormalities), CK contained chromosomal abnormalities such as +8, 5q-, and 12 cases (24.5%) of monosomal karyotypes (MK). Genetic testing was performed in 37 patients, and 24 (64.9%) patients showed genetic mutations, among which ASXL1 mutation was the most common (8 cases, 21.6%), followed by TET2 mutation in 6 cases (16.2%). Kaplan-Meier analysis showed that AML-MRC patients with high CK (P=0.012), 5q- abnormalities (P=0.038), and TP53 mutations (P=0.008) had poor overall survival.@*CONCLUSION@#AML-MRC has unique genetic characteristics, and high CK, 5q- and TP53 mutations are poor prognostic factors.

Comparison of biological characteristics of placenta mesenchymal stem cells derived from fetus / 生物工程学报

Mesenchymal stem cells (MSCs) have broad application potentials in regenerative medicine and translational medicine. Obtaining large quantities of primary-cultured MSCs and select the most suitable cell origin for targeted diseases are critical to research. To select the most suitable seed cells of MSCs from different origins for clinical treatment and research, biological characteristics of MSCs from human umbilical cord and placenta were compared. These include cell morphology, surface marker expression, differentiation and karyotype. Transcriptome sequencing of four MSCs from fetus were performed and the results were analyzed from the perspective of proliferation and cytokine secretion. The results revealed that MSCs from umbilical cord (UC), amniotic membrane (AM), chorionic membrane (CM), chorionic villi (CV) and deciduae (DC) met the minimum standards of the International Society of Cell Therapy (ISCT) in 2006 and had the general characteristics of stem cells. Karyotype analysis showed that MSCs derived from UC, AM, CM and CV were all from fetus except that the DC-MSCs were from mother. Transcriptome sequencing analysis showed that hMSCs from umbilical cord and placenta had similar gene expression patterns, while different expression patterns were observed in specific genes involved in cell cycle, cell division, cell death, cell growth and development. These genes play important roles in transcriptional regulation, DNA repair, DNA replication and chromosome stability, which were momentous components of cellular or subcellular fraction movement, cell communication, cell tissue protrusions, cytokine secretion and hormone metabolism. Transcriptome sequencing analysis explained the differences in biological characteristics among MSCs from different sources, while verification experiments based on the transcriptome sequencing results showed that the proliferation and cytokine secretion capabilities of MSCs from different sources were significantly different. In all, UC-MSCs and CV-MSCs with stronger proliferation and higher levels of paracrine factors secretion may show their respective advantages in treating diseases.

Diagnostic and prognostic value of ROR1 antigen in patients with chronic lymphocytic leukemia / 中华检验医学杂志

Objective:To detect the expression of receptor tyrosine kinase-like orphan receptor 1 (ROR1) antigen in chronic lymphocytic leukemia (CLL) and evaluate its diagnostic value and explore its correlation with the abnormalities of genetics and molecular biology.Methods:All of 209 newly diagnosed B-cell chronic lymphoproliferative disorders (B-CLPD) patients who were admitted to the First Affiliated Hospital of Nanjing Medical University (Jiangsu Provincial People′s Hospital) from November 2020 to November 2021 were collected retrospectively, including 70 cases of CLL with typical phenotype, 16 cases of CLL with atypical phenotype, 14 cases of MCL, and 109 cases of other types of B-CLPD. Multi-parameter flow cytometry (FCM) was used to detect the expression levels of ROR1 in tumor cells of 209 patients. And then the diagnostic value of ROR1 in CLL patients and its correlation with the genetic and molecular biological abnormalities were analyzed by c2 test and fourfold table assessment.Results:The positive expression rate of ROR1 in CLL patients was significantly higher than that in non-CLL patients (78%>11%, P<0.001); there was no significant difference of ROR1 expression between typical phenotype CLL and atypical phenotype CLL (81%>63%, P>0.05). The positive expression rate of ROR1 in atypical phenotype CLL was significantly higher than that in MCL (63%>21%, P<0.05). Additionally, there was significant difference in detection rate of chromosomal abnormalities between ROR1 +CLL group and ROR1 -CLL group. The detection rate of complex karyotype in ROR1 +CLL group was higher than that in ROR1 -CLL group (34%>14%, P<0.05). The CLL patients over 60 years old had higher ROR1 positive rate ( P<0.05). Conclusions:ROR1 can be helpful in the diagnosis of CLL, especially in the differential diagnosis of atypical phenotype CLL, MCL and other types of B-CLPD. Patients with ROR1 positive expression were older and more likely to detect complex chromosomal karyotypes.

Value of detection of cell-free fetal DNA in maternal peripheral blood for Down's syndrome screening / 中国基层医药

Objective:To investigate the value of detection of cell-free fetal DNA in maternal peripheral blood for Down's syndrome screening.Methods:A total of 1667 pregnant women who were at a higher risk of having a baby with Down's syndrome who received Down's syndrome screening in the First People's Hospital of Datong between January 2020 and March 2021 were prospectively analyzed. After detection of cell-free fetal DNA in maternal peripheral blood, pregnant women who were at a higher risk of having a baby with Down's syndrome decided whether to accept amniocentesis for fetal karyotype. Then follow-up was performed for collecting related information. Finally, detection results of cell-free fetal DNA in maternal peripheral blood, fetal karyotype results and pregnancy outcomes were analyzed.Results:The positive predictive value of detecting cell-free fetal DNA in maternal peripheral blood for trisomy 21, trisomy 18, and trisomy 13 and chromosome abnormality were 100.0%, 100.0%, 0.0% and 66.7%, respectively. The sensitivity and total specificity of detecting cell-free fetal DNA in maternal peripheral blood were 100.0% and 99.8%, respectively. The false positive rate of detecting cell-free fetal DNA in maternal peripheral blood for trisomy 13 and chromosome abnormality was 0.12% and 0.06%, respectively.Conclusion:A high degree of coincidence between detection results of cell-free fetal DNA in maternal peripheral blood and fetal karyotype results can be used as a prenatal screening for Down's syndrome. This has certain guiding significance for invasive prenatal diagnosis through amniocentesis-based fetal karyotype analysis.