Cromosomopatías y malformaciones congénitas en Cochabamba: un análisis epidemiológico a través de los cariotipos

Objetivos: Describir las características epidemiológicas de las alteraciones cromosómicas y de las malformaciones congénitas en Cochabamba. Métodos: Se incluyeron en el estudio 166 pacientes con sospecha de alteración cromosómica, referidos de hospitales de Cochabamba. A cada paciente se le realizó la anamnesis, exploración física y la prueba de cariotipo en muestra de sangre periférica. Resultados: De los 166 pacientes estudiados, 79 (48 %) tenían cariotipo sin alteración y 87 (52 %) tenían alguna anomalía cromosómica. La alteración más frecuente fue Síndrome de Down (34 %), seguido por Síndrome de Turner, (11 %), Síndrome de Edwards, (2 %), trisomía 22 (1 %) Klinefelter (1 %), Deleciones (2 %) o cromosoma marcador 5 (1 %). La distribución de pacientes entre 0 y 1 año con dismorfia congènita fue la siguiente: 10% de recién nacidos hasta 7 días, 20 % neonatos entre 8 y 28 días y 70 % de lactantes menores y mayores desde 28 días a un año. Dentro este grupo encontramos alteración cromosómica confirmada en 43 pacientes (62 %) y en 26 (38%) cariotipo sin alteración. La edad promedio de los padres de niños con Sd. de Down, fue mayor a 40 años y para los otros síndromes fue menor a 30 años. Conclusiones: Las cromosomopatías más frecuentes fueron el Sd. de Down, Sd. de Turner y Sd. de Edwards. La mayor parte de los cariotipos fueron con alteración completa o libre en los diferentes Síndromes. La edad de la madre y del padre y el número de abortos parecen ser un factor de riesgo para el Síndrome de Down, y para el Síndrome de Turner.

Objectives: to describe the epidemiological characteristics of chromosomal abnormalities and congenital malformations in Cochabamba. Methods: 166 patients with suspected chromosomal abnormalities referred from hospitals in Cochabamba were included in the study. Each patient underwent a medical history, physical examination, and chromosomal analysis using a peripheral blood sample. Results: Of the 166 patients studied, 79 (48%) had normal chromosomal results and 87 (52%) had some chromosomal abnormality. The most common abnormality was Down syndrome (34%), followed by Turner syndrome (11%), Edwards syndrome (2%), trisomy 22 (1%), Klinefelter syndrome (1%), deletions (2%), or marker chromosome 5 (1%). The distribution of patients between 0 and 1 year of age with congenital dysmorphism was as follows: 10% of newborns up to 7 days, 20% of neonates between 8 and 28 days, and 70% of infants from 28 days to one year. Within this group, confirmed chromosomal abnormalities were found in 43 patients (62%) and normal chromosomal results in 26 (38%). The average age of parents of children with Down syndrome was over 40 years, while for other syndromes it was under 30 years. Conclusions: The most frequent chromosomal disorders were Down syndrome, Turner syndrome, and Edwards syndrome. Most chromosomal results were complete or free of alteration in the different syndromes. The mother's and father's age and the number of abortions appear to be risk factors for Down syndrome, and for Turner syndrome.

Clinical significances of additional chromosome abnormalities and t (15;17) in acute promyelocytic leukemia / 白血病·淋巴瘤

Objective To investigate the clinical significances of additional chromosome abnormalities and t(15;17) in acute promyelocytic leukemia (APL). Methods A total of 90 newly diagnosed APL patients in the Affiliated Hospital of Qingdao University from January 2007 to June 2014 were analyzed retrospectively. Patients with different chromosome karyotypes were divided into four groups: additional chromosome number abnormalities group (16 cases), additional chromosome structural abnormalities group (14 cases), additional chromosome number and structural abnormalities group (4 cases) and typical chromosome group (56 cases). According to whether the patient contained t(15;17), the patients were divided into group with t (15;17) and group without t (15;17). The short-term efficacy and survival of each group were analyzed and compared. Results The rate of complete remission in additional chromosome number abnormalities group, additional chromosome structural abnormalities group, additional chromosome number and structural abnormalities group and typical t(15;17) chromosome changes group were 56.3％(9/16), 100.0％(14/14), 25.0％(1/4) and 82.1％(46/56), the early mortality rates were 25.0％(4/16), 0 (0/14), 75.0％(3/4) and 8.9％ (5/56) respectively. Among them, the additional number and structural abnormalities group had lower complete remission rate and higher early mortality rate, and compared with other groups, the differences were statistically significant (all P< 0.05). The complete remission rates of the group with t (15;17) and the group without t (15;17) were 80.5％ (66/82) and 50.0％ (4/8), respectively, and the difference was not statistically significant (P= 0.070). Conclusions APL patients with karyotypes with additional number and structural changes have low complete remission rate, high early mortality rate and poor prognosis. Patients with t(15;17)have a high rate of complete remission.

Chromosomal abnormalities in recurrent miscarriages by conventional karyotyping analysis / Anormalidades cromossômicas em abortos recorrentes por análise de cariótipo convencional

Abstract Objectives: to describe the prevalence and types of chromosomal abnormalities in couples with recurrent miscarriage and products of conception. Methods: electronic searches were performed in the PubMed/Medline database and in the Portal Regional da Biblioteca Virtual em Saúde/BVS (Regional Website of the Virtual Library in Health/BVS) using the descriptors "chromosomal abnormalities and abortions and prevalence". After applying the inclusion and exclusion criterias, 17 studies were selected. Results: 11 studies were conducted in couples with recurrent miscarriage and six in products of conception. The main results of the couples with recurrent miscarriage were: the frequency of chromosomal abnormalities which varied from 1.23% to 12% and there was a predominance alteration of the chromosomal structures (reciprocal translocations, followed by Robertsonian). In products of conception, the results observed were: the frequency of chromosomal abnormality was above 50% in approximately 70% of the studies; there was a predominance alteration of the numerical chromosomal (trisomy - chromosomes 16, 18, 21 and 22, followed by polyploidy and monosomy X). Conclusions: in summary, cytogenetic alterations represent an importante cause of pregnancy loss and its detection can help couples with genetic counseling. Therefore, the value of knowledge on the prevalence of cytogenetic abnormalities in miscarriage samples is unquestionable, once it is permitted a proper genetic counseling for the couple.

Resumo Objetivos: descrever a prevalência e os tipos de anormalidades cromossômicas em casais com aborto recorrente e em produtos de concepção. Métodos: foram realizadas buscas eletrônicas nas bases de dados PubMed/Medline e no Portal Regional da Biblioteca Virtual em Saúde/BVS usando os descritores "chromosomal abnormalities and abortions and prevalence". Após a aplicação de critérios de inclusão e exclusão, 17 estudos foram selecionados. Resultados: 11 estudos foram realizados em casais com aborto recorrente e seis em produtos de concepção. Os principais resultados em casais com aborto recorrente foram: a frequência de anormalidades cromossômicas variou de 1,23% a 12% e houve predomínio de alterações cromossômicas estruturais (translocações recíprocas, seguidas por Robertsonianas). Nos produtos de concepção, os resultados observados foram: a frequência de anormalidade cromossômica foi acima de 50% em aproximadamente 70% dos estudos; houve predomínio de alterações cromossômicas numéricas (trissomia - cromossomos 16, 18, 21 e 22, seguido de poliploidia e monossomia X). Conclusões: em resumo, as alterações citogenéticas representam uma importante causa de perdas gestacionais e sua detecção auxilia no aconselhamento genético do casal. Portanto, o valor do conhecimento sobre a prevalência de anormalidades citogenéticas em amostras de aborto espontâneo é indiscutível, uma vez que permite o aconselhamento genético adequado ao casal.

Use of the fluid obtained by puncture of cystic hygroma: an alternative method for fetal karyotyping / Uso do fluido obtido por punção do higroma cístico: método alternativo para cariotipagem fetal

ABSTRACT The aim of our study aim was to report the case of a fetus with Turner syndrome (TS) diagnosed by karyotype from cystic hygroma (CH) fluid, highlighting the applications and importance of this procedure. First-trimester screening revealed an increased nuchal translucency measurement, cervical cystic hygroma and head and trunk subcutaneous edema. The presence of oligohydramnios prevented the performance of amniocentesis. We performed puncture of the CH for fetal karyotyping, which revealed X-chromosome monosomy (45,X), compatible with TS. Therefore, the use of CH fluid as an alternative sample for fetal karyotyping may be considered when conventional invasive procedures can not be performed.

RESUMO Relatamos o caso de um feto com síndrome de Turner (TS), diagnosticado por cariótipo de fluido do higroma cístico (CH), salientando as aplicações e a importância desse procedimento. Rastreio de primeiro trimestre revelou aumento da medida da translucência nucal, higroma cístico cervical e edema subcutâneo de cabeça e tronco. A presença de oligodrâmnio impediu a execução de amniocentese. Realizamos punção do CH para cariotipagem fetal, que revelou monossomia do cromossomo X (45,X), compatível com TS. Portanto, o uso de fluido do CH, como amostra alternativa para cariotipagem fetal, pode ser considerado quando procedimentos invasivos convencionais não podem ser realizados.

A retrospective analysis of cytogenetic alterations in patients with newly diagnosed multiple myeloma: a single center study in Korea

BACKGROUND: The accurate identification of cytogenetic abnormalities in multiple myeloma (MM) has become more important over recent years for the development of new diagnostic and prognostic markers. In this study, we retrospectively analyzed the cytogenetic aberrations in MM cases as an initial assessment in a single institute. METHODS: We reviewed the cytogenetic results from 222 patients who were newly diagnosed with MM between January 2000 and December 2015. Chromosomal analysis was performed on cultured bone marrow samples by standard G-banding technique. At least 20 metaphase cells were analyzed for karyotyping. RESULTS: Clonal chromosome abnormalities were detected in 45.0% (100/222) of the patients. Among these results, 80 cases (80.0%) had both numerical and structural chromosome abnormalities. Overall hyperdiploidy with structural cytogenetic aberrations was the most common finding (44.0%), followed by hypodiploidy with structural aberrations (28.0%). Amplification of the long arm of chromosome 1 and -13/del(13q) were the most frequent recurrent abnormalities, and were detected in 50 patients (50.0%) and 40 patients (40.0%) with clonal abnormalities, respectively. The most common abnormality involving 14q32 was t(11;14)(q13;q32), which was observed in 19 cases. CONCLUSION: These findings demonstrate that myeloma cells exhibit complex aberrations regardless of ploidy, even from a single center in Korea. Conventional cytogenetic analysis should be included in the initial diagnostic work-up for patients suspected of having MM.

Analysis of chromosome karyotype characteristics in patients with chronic myeloid leukemia / 白血病·淋巴瘤

Objective To explore the characteristics of chromosome karyotypes in patients with chronic myeloid leukemia (CML),and to provide help to individualized treatment.Methods The date of chromosome karyotypes of 313 patients and FISH of 45 of these patients with CML excluding Ph chromosome negative (Ph-) after treatment were collected from January 2014 to June 2015.Karyotypes were detected by R-banding.Results In the 313 cases,307 cases (98.08 ％) were Ph chromosome positive (Ph+) and 6 cases (1.92 ％) were Ph-.In the Ph+ patients,288 cases (93.81％) were classical Ph+,and 19 cases (6.19 ％) were variant rearrangements.There were 48 cases (15.34 ％) with additional chromosome changes in all patients,including 41 cases (13.10 ％) with classical Ph+ and 7 cases (2.24 ％) with variant rearrangements.The most common additional chromosome changes were in the following order:+der(22) Ph (35.42 ％),+8 (33.33 ％) and +21 (12.50 ％).The most frequent pattern of combination was +der(22) combined with +8 (16.67 ％),followed by +8 combined with +21 (10.42 ％).The proportion of pure Ph+ patients in chronic phase was higher than that of advanced phase,but proportion of classical Ph+ patients with additional chromosome changes in chronic phase was lower than that in advanced phase (x2 =1 11.55,P ＜ 0.01).The proportions of chronic phase and advanced phase patients with simple variant rearrangements were not different from those with complex variant rearrangements (P =0.582).The results of FISH in 45 cases were all positive,including 5 cases with 2 GIR1Y.Conclusion Karyotype analysis can reveal the instability of genetic and the characteristics of disease progression by identifying the evolution of Ph,which provides the basis for clinical doctors to choose suitable treatment.

A Case Report of Solitary Fibrous Tumor in the Axilla of a 4-year-old Girl with Additional Marker Chromosome / 임상소아혈액종양

Solitary fibrous tumor (SFT) is uncommon and known to affect in middle-aged adults, with rare reports of occurrences in children. Although frequently involving the pleura, recent reports show that SFT may also involve extrapleural sites. SFT is known as a benign tumor, but in some cases SFT recurs, invades locally, or shows malignant transformation. We experienced a case of SFT that developed in the axilla of a 4-year-old girl with multiple congenital anomalies with constitutional chromosomal abnormality of 46,XX[44]/47,XX,+mar[11]. Her tumor could not be surgically resected due to the patient's multiple anomalies including congenital heart disease, chronic lung problem and seizure disorder. She died of congestive heart failure with respiratory failure due to tumor growth. This report is meaningful not only because SFT affected a pediatric patient with a constitutional chromosomal abnormality, but also because the tumor originated from the axillary area, a site of origin rarely reported for SFTs.

Sindrome de Edwards o Trisomia 18: reporte de un caso / Edwards syndrome or trisomy 18: a case report

RESUMEN Se presenta un caso de síndrome de Edwards, por sospecha ecográfica desde la semana 18 de gestación, con seguimiento ecográfico 2D, 3D y 4D, confirmado por cariotipo post natal. Óbito 48 hs post nacimiento.

ABSTRACT An Edwards’ case is presented, because of an ultrasound suspicion since the 18th gestation week, with an ultrasound follow-up using 2D, 3D and 4D, confirmed by post natal karyotype. Fetus died after 48 hours of its birth.

A Case Report of Solitary Fibrous Tumor in the Axilla of a 4-year-old Girl with Additional Marker Chromosome / 임상소아혈액종양

Solitary fibrous tumor (SFT) is uncommon and known to affect in middle-aged adults, with rare reports of occurrences in children. Although frequently involving the pleura, recent reports show that SFT may also involve extrapleural sites. SFT is known as a benign tumor, but in some cases SFT recurs, invades locally, or shows malignant transformation. We experienced a case of SFT that developed in the axilla of a 4-year-old girl with multiple congenital anomalies with constitutional chromosomal abnormality of 46,XX[44]/47,XX,+mar[11]. Her tumor could not be surgically resected due to the patient's multiple anomalies including congenital heart disease, chronic lung problem and seizure disorder. She died of congestive heart failure with respiratory failure due to tumor growth. This report is meaningful not only because SFT affected a pediatric patient with a constitutional chromosomal abnormality, but also because the tumor originated from the axillary area, a site of origin rarely reported for SFTs.

Routine laboratory diagnosis of chromosome aberrations in multiple myeloma.

Multiple Myeloma (MM) is a Plasma Cell (PC) malignancy characterized by proliferation of differentiated B cells mainly in the bone marrow. Genetic abnormalities are powerful prognostic factors in MM for risk stratification and therapeutic strategies. The standard diagnostic tests to detect genetic abnormalities in MM include Conventional Cytogenetic Analysis (CCA) and Interphase Fluorescence In Situ Hybridization (FISH). Due to the low proliferative activity of the abnormal clone, only 30-50% of newly diagnosed MM demonstrate an abnormal karyotype by CCA. CCA is a biological test which requires dividing cells for analysis. The t(4;14) translocation which carries a poor prognosis is cryptic and cannot be detected by CCA. These limitations were overcome partly by the incorporation of interphase FISH as a routine diagnostic test in MM. There is an international consensus that FISH should be performed in all newly diagnosed MM to detect high-risk genetic abnormalities. FISH testing must be done on purified PCs or by simultaneous labeling of cytoplasmic immunoglobulin light chain to allow identification of PCs. The minimum essential abnormalities to test for are t(4;14), t(14;16) and del(17)(p13). However, there is no consensus on the optimal protocol for CCA and interphase FISH. We review here the types of chromosomal aberrations found in MM, the prognostic significance of these abnormalities, methodologies in CCA to improve on the low yield of abnormal karyotypes, and protocols in interphase FISH.

Chromosomal and molecular abnormalities in a group of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia attending an infertility service

PURPOSE: To determine the frequency of genetic alterations in a population of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia. MATERIALS AND METHODS: Retrospective study of a group of 143 infertile men with severe oligozoospermia or non-obstructive azoospermia from the Andrology Outpatient Clinic of the Human Reproduction Service at the ABC School of Medicine. Of these patients, 100 had severe oligozoospermia, and 43 non-obstructive azoospermia. All patients underwent a genetic study which included karyotype analysis and Y-microdeletion investigation. RESULTS: Genetic abnormalities were found in 18.8 percent of the studied patients. Chromosomal abnormalities were found in 6.2 percent of the patients, being more prevalent in the azoospermia group (11.6 percent) than in the oligozoospermia group (4 percent). Chromosomal variants were found in 8.3 percent, and Y-chromosome microdeletions in 4.2 percent of patients. CONCLUSION: The high frequency of genetic alterations (18.8 percent) in our series justified performing a genetic investigation in a population with idiopathic infertility, as results may help determine the prognosis, as well as the choice of an assisted reproduction technique. Moreover, a genetic investigation could minimize the risk of transmitting genetic abnormalities to future generations such as genetic male infertility, mental retardation, genital ambiguity and/or birth defects.

Incidence and Spectrum of Chromosomal Abnormalities associated with Spontaneous Abortions in Korea: 470 Products of Conception over a Period of 6 Years (2005-2010)

PURPOSE: Cytogenetic analysis of spontaneous abortions (SABs) provides valuable information to establish the causes of fetal loss, information that is essential to provide accurate reproductive and genetic counseling couples. Such analysis also provides information on the frequencies and types of chromosomal abnormalities and associated risks of recurrence. However, there have only been a few reports of chromosomal abnormalities in small samples of SABs in the Korean population. Here, we report the incidence and spectrum of chromosomal abnormalities for cases of 470 SAB in Korea. MATERIALS AND METHODS: Between 2005 and 2010, a total of 470 products of conception (POC) resulting from SABs were submitted to our laboratory for cytogenetic analysis from various medical sites in Korea. The incidences and types of specific chromosomal abnormalities were determined. The abnormalities were distinguished by gestational age at the time of SAB and by maternal age. RESULTS: The frequency of chromosomal abnormalities in POCs was 54.3% (255/470), including 228 (89.3%) numerical and 27 (10.7%: 3 balanced and 24 unbalanced) structural abnormalities. Among the numerical abnormalities, trisomy was predominant (67.0%), followed by monosomy X (12.5%), polyploidy (8.2%), triple X (0.8%), and autosomal monosomy (0.8%). The overall sex ratio (male: female) among the 470 POCs with normal and abnormal karyotypes were 0.58 and 0.65, respectively. Trisomies were identified for each autosome, with the exceptions of 1, 3, and 19. Among the 171 autosomal trisomies, trisomy 16 was the most common (19.9%), followed by trisomy 22 (13.5%), trisomy 21 (12.3%), trisomy 15 (9.9%), and trisomies 18 and 13 (5.3%). The frequency of chromosomal abnormalities decreased with gestational age and increased with maternal age, but only because of increases in trisomies and complex abnormalities. CONCLUSIONS: We have presented a large collection of cytogenetic data for SABs collected during the past 6 years and provided a database for prenatal genetic counseling of parents who have experienced SABs in Korea.

Análisis clínic y molecular de una pacientecon pentasomia del cromoooma x. / Clinical and Molecular Analysis of a Patient with X-Chromosome Pentasomy.

Introducción: la Pentasomia del X (49,XXXXX) es una alteración cromosómica poco frecuente, que afecta a mujeres y fue descrita en 1963 por Kesaree y Wooley. Hasta la fecha se han reportado menos de 30 casos en la literatura. Se presenta un caso de pentasomia del cromosoma X, y mediante técnicas de biología molecular (microsatélites) se determino el origen materno de los cromosomas X adicionales. Caso clínico: paciente de 28 meses, con talla baja proporcionada, braquicefalia, fascies característica, genitales externos femeninos con labios mayores hipoplásicos, braquidactilia, clinodactilia bilateral del quinto dedo, luxación de rodilla derecha, deformidad en varo. Se realizó cariotipo en sangre periférica que reportó un complemento cromosómico 49,XXXXX. Materiales y métodos: se realizó extracción de ADN y PCR para la amplificación de ocho microsatélites o STR’s tetra y dinucleotídicos situados a lo largo del cromosoma X. Los productos amplificados se analizaron en el secuenciador ALF EXPRESS. Con la información alélica se realizó la construcción del haplotipo y el análisis de dosis génica mediante la determinación del área bajo la curva. Resultados y discusión: el análisis de los ocho STR’s realizados en la paciente y sus padres, permitió establecer que los cromosomas X extras corresponden a información alélica heredada de la madre. Se analizan los resultados y los eventos que se han documentado como relacionados con los fenómenos de no disyunción. Conclusión: el origen de la doble no disyunción que generó la pentasomia es materna, en donde un ovulo tetrasómico, con cuatro copias de cromosoma X fue fecundado con un espermatozoide monosómico normal.

Introduction: Pentasomy X is a rare chromosomal disorder which affects women. It was first described in 1963 by Kesaree and Wooley. Up to date, less than 30 cases have been reported. We report a case of 28 month old female patient with clinical features of Pentasomy X. Cytogenetic and molecular analysis revealed that her karyotype was 49,XXXXX and that the additional X chromosomes were maternal in origin. Case report: We present a 28 month old female patient with short stature, brachycephaly, characteristic facies, with female external genitalia, hypoplasic labia majora, brachydactyly, bilateral clinodactyly of the fifth finger, dislocation of the right knee with genu varum deformities. Chromosome analysis revealed a karyotype of 49, XXXXX. Materials and methods: We performed DNA extraction and subsequent PCR amplification of 8 microsatellites (STR’s) throughout the X chromosome. The amplified products were analyzed in the ALF EXPRESS sequencer. The allelic information obtained was used to construct haplotypes and to analyze gene dosage through the determination of the area under the curve. Results and discussion: Through the analysis of eight STR’s in the patient and her parents we were able to determine that the extra X chromosomes were inherited from the mother. We analyze our results and other well documented events that have been related to non-disjunctions. Conclusion: We confirmed through molecular analysis of X-linked DNA markers that the aneuploidy developed from two maternal non-disjunctions.

Inestabilidad cariológica durante la formación de células madres del polen en Aloe vera (Aloaceae)

Con el objetivo de esclarecer la posible existencia de anomalías citogenéticas que aminoren la fertilidad del polen de Aloe vera, se analizó la etapa de proliferación celular que lleva a la formación de células madres del polen (CMPs). Se recolectaron botones florales (BF) en 25 plantas de una población ubicada a 10°34’15’’ N, 64°12’08’’ W, los cuales fueron fijados en Carnoy I por 24 h y almacenados en etanol (70 % v/v). Las observaciones se realizaron en preparaciones temporales obtenidas por la tinción del contenido de las anteras suspendidas en orceína acética (1.5 % p/v) por 5 minutos. De las 9 411 células analizadas, 17 % mostraron 1-8 puentes entre cromátidas hermanas, 13 % 1-7 micronúcleos de 0.9-4.8 µm, 8.1 % estaban unidas por puentes y 0.1 % no contenían cromatina. El resto de las células (61.8 %) presentó configuraciones aparentemente normales y sin variaciones morfométricas. La proliferación irregular de una fracción de CMPs (39.2 %) sugiere que las condiciones ambientales de la zona árida donde se realizaron los muestreos inducen inestabilidad cromosómica y cambios fisiológicos que afectan el normal desarrollo de la mitosis premeiótica, generando pérdida o adición de fragmentos, asociados a deficiencias y duplicaciones génicas.

Effect of vitrification on viability and chromosome abnormalities in 8-cell mouse embryos at various storage durations

This study was desµgned to investµgate the effect of vitrification and post-thaw survival and chromosomal aberrations caused by vitrification of vitrified 8-cell mouse embryos in comparison with a controligroup. To this purpose the survival rate and the frequency of chromosomal aberrations were assessed in frozen-thawed 8-cell mouse embryos after various storage durations in the presence of ethyleneiglycol as cryoprotectant. eight-cell mouse embryos were obtained from NMRI mice 3 days after mating. Retrieved embryos were transferred to vitrification solution containing ethyleneiglycol as cryoprotectant, then transferred into a vitrification straw using standard technique, and vitrified in liquid nitrogen. Sixigroups of embryos according to storage duration (24 hours, 1 and 2 weeks, 1-6 months) were frozen. After appropriate storage periods embryos were thawed and studied for their viability 4-6 hours after thawing and intact embryos were transferred to fresh medium containing colcemid. After 48 hours, the embryos were fixed and studied for their chromosome abnormalities using Tarkowsky's drying technique. Results indicate that freezing affects the viability and chromosome structure of embryos when compared with the controligroup. Furthermore increasing the storage duration reduces the viability and increases the chromosome aberrations of embryos (such as aneuploidy and polyploidy). This result mµght indicate that the effects of vitrification on the cytoskeleton or other cellular organelle mµght produce chromosomal alterations leading to cell death.

A Cytogenetic Study in Patients with Sex Chromosome Abnormalities / 소아과

PURPOSE: This study was performed to evaluate the recent frequency of karyotypes in different sex chromosome abnormalities and to evaluate the age and clinical manifestations at diagnosis. METHODS: Peripheral blood leukocytes were obtained from subjects who were clinically suspected to have sex chromosome abnormalities and referred to the cytogenetic laboratory in the Department of Pediatrics, Kyungpook National University Hospital from February 1981 to August 2001. RESULTS: The relative frequencies of different sex chromosome abnormalities were Klinefelter (52 percent), Turner (42 percent), XXX syndrome (3 percent) and mixed gonadal dysgenesis (3 percent). The populations of different karyotypes in Klinefelter syndrome were 47, XXY (97 percent) and 46, XY/ 47, XYY (3 percent). The populations of different karyotypes in Turner syndrome were 45, X (67 percent, ), mosaicism (23 percent), and structural aberrations (10 percent). The populations of different karyotypes in XXX syndrome were 47, XXX (67 percent, ) and 46, XX/47, XXX (33 percent). All mixed gonadal dysgenesis were 45, X/46, XY. Eighty one percent of sex chromosome abnormalities was diagnosed after puberty. Patients diagnosed with Klinefelter and Turner syndrome in infancy showed nearly normal phenotypes or had minor congenital malformations. CONCLUSION: Early diagnoses of sex chromosome abnormalities is required to prevent associated morbidities and to maximize growth and development. We have to pay careful attention in diagnoses of Turner syndrome because of the high proportion of mosaicism and structural aberrations.

Prenatal diagnosis and clinical analysis of fetal sex chromosome abnormalities / 重庆医科大学学报

Objectives:To analyze the association between fetal sexchromosome abnormalities and various high-risk indications during pregnancy. Methods:mid-trimester amniocentesis was used to detect fetal sex chromosomes in 2 346 high-risk pregnant women. Results:Among the 16 cases of abnormal sex chromosome,there were 3 cases of 45,X,1 case of 45,X/46,XX ,1 case of 45,X/46,X,i (X)(q10;q10),1 case of 45,X/46,XX,del(X)(q11),1 case of 46,X,i(X)(q10;q10),4 cases of 47,XXY,1 case of 47,XYY,2 cases of 47,XXX,1 case of 46,XY/47,XXY,and 1 case of 46,XX,inv9(X). Conclusion:To reduce the number of abnormal fetuses, invasive prenatal diagnostic techniques are feasible tools for confirming fetal sex chromosomes abnormalities. Advanced maternal age, positive serum screening results or ultrasound shows fetal abnormalities or fetal hygroma were associated with a higher frequency of fetal sex chromosome abnormalities.

Application of interventional ultrasound to prenatal diagnosis of fetal chromosomal abnormalities / 中华超声影像学杂志

Objective To evaluate the role of interventional ultrasound technique in prenatal diagnosis of fetal chromosomal abnormalities.Methods Percutaneous ultrasound-monitored amniocentesis and cordocentesis were performed on 186 pregnant women with indicantions for prenatal diagnosis to detect karyotype of the fetus.Results All the cases were punctured successfully.Percutaneous ultrasound-monitored amniocentesis was performed in 105 pregnant women.The archievement rate of the aminiotic fluid was 97.1%,and the detection rate of the chromosomal abnormality was 8.8%.Percutaneous ultrasound-monitored cordocentesis were performed in 81 pregnant women.The archievement rate of the cord blood was 98.8%,and the detection rate of the chromosomal abnormality was 5.0%.There was no significant deviation between them.The valid indications of the puncture included the abnormal serology screening results of pregnant women,the history of abnormal deliveries,the history of the trisomy 21,and the abnormal fetus detected by ultrasound,the last of which was higher than the other indications at the detection of the chromosomal abnormality.Conclusions Interventional ultrasound technique proves to be valid in the prenatal diagnosis,and ultrasound detection of abnormal fetus indicates the possibility of the fetal chromosomal abnormality.

Frequencies of Fetal Chromosomal Abnormalities at Prenatal Diagnosis: 10 years experiences in a single institution

We present frequencies of fetal chromosomal abnormalities in 4,907 prenatal cytogenetic examinations at Samsung Cheil Hospital from 1988 to 1997 for 10 yr duration. Prenatal karyotypes were undertaken in 3,913 amniotic fluid samples, 800 chorionic villi samples, and 194 percutaneous umbilical blood samples. The frequency of fetal abnormal karyotypes was 3.1% (150 cases). Numerical chromosome abnormalities were 87 cases (1.8%) and structural aberrations of chromosomes were 63 cases (1.3%). In the numerical chromosomal abnormalities, the frequency of trisomy 21 was by far the highest (36 cases), followed by trisomy 18 in 22 cases and sex chromosome aneuploidies in 19 cases. In the structural chromosomal aberrations, 5 cases had the inversions in chromosome 2, 7, 17, and Y. Chromosomal deletions in 6 cases and additions in 4 cases were analysed. Of the remaining 47 translocation in abnormal fetuses, reciprocal translocation was in 26 cases and Robertsonian translocation in 21 cases. Among them, 41 cases were balanced translocation and 6 were unbalanced. Thirty five cases of translocation were inherited from one of the parents. Four had de novo chromosome rearrangements, and 8 cases were unknown.