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RESUMEN Comprender el control de la determinación del sexo y la diferenciación sexual en peces es fundamental para mejorar aspectos de manejo, productividad, economía y conservación de las especies. El objetivo de esta revisión es brindar información de los principales mecanismos genético-moleculares de determinación y diferenciación sexual en peces teleósteos. La búsqueda de información se desarrolló entre 2019 - 2021 a través de bases de datos bibliográficas utilizando frases como: "sex determination fish", "sexual differentiation fish'" y "sex neotropical fish". La selección de la información se realizó llevando en consideración máximo 10 años de publicación, descartando documentos considerados como tesis de maestra o doctorado. La determinación del sexo puede ser definido por sistemas cromosómicos como XX/XY ZZ/ZW XX/X0, ZZ/Z0, XXI, XX2 y XIX2Y o modulado por diferentes genes autosómicos tales como cyp19al , fox12, figla, dmrtl , sox9, amh ygsdf sin embargo, a pesar de los grandes avances en la investigación en el área molecular; el proceso de regulación en la determinación y diferenciación del sexo en peces aún no está completamente dilucidado, especialmente en especies Neotropicales.
AВSTRАСT Understanding the control of sex determination and sexual differentiation in fish is essential to improve aspects of management, productivity economy and conservation of the species. The objective of this review is to provide information on the main genetic-molecular mechanisms of sexual determination and differentiation in teleost fish. The information search was developed between 2019 - 2021 through bibliographic databases using phrases such as: "sex determination fish", "sexual differentiation fish" and "sex neotropical fish". The selection of the information was carried out taking into consideration a maximum of 10 years of publication, discarding documents considered as master's or doctoral theses. The sex determination can be defined by chromosome systems such as XX/XY, ZZ/ZW, XX/X0, ZZ/ Z0, XXI, XX2 and XIX2Y or modulated by different autosomal genes such as cyp19al1 fox12, figla, dmrtl: sox9, amh, and gsdf, However despite the great advances in research in the molecular area, the regulation process in the determination and differentiation of sex in fish is not yet fully elucidated, especially in species Neotropical.
RESUMO Compreender o controle da determinação do sexo e a diferenciação sexual nos peixes é fundamental para melhorar a gestão, produtividade, economia e conservação das espécies. O objetivo desta revisão é fornecer informação sobre os principais mecanismos genéticos-moleculares da determinação e diferenciação sexual em peixes teleósteos. A busca da informação foi realizada entre 2019 - 2021 através de bases de dados bibliográficas, utilizando frases como: "sex determination fish", ""sexual differentiation fish" y ""sex neotropical fish". A seleção da informação foi realizada levando em consideração no máximo 10 años de publicação, descartando-se documentos considerados como teses de mestrado ou doutorado. A determinação do sexo pode ser definida por sistemas cromossômicos como XX/XY, ZZ/ZW XX/X0, ZZ/Z0, XXl, XX2 e XIX2Y ou modulada por diferentes genes autossômicos tais como cyp19al , fox12, figla, dmrtl1 sox9, amh e gsdf no entanto, apesar dos grandes avanços na pesquisa molecular o processo de regulação na determinação e diferenciação do sexo nos peixes ainda não está totalmente elucidado, especialmente nas espécies Neotropicais.
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Objective:To analyze the clinical and genetic characteristics of a 27-year-old male patient with intellectual disability and his pedigree to provide a reference for genetic counseling and prenatal diagnosis.Methods:G-banding and array comparative genomic hybridization (aCGH) were performed to analyze the karyotypes and genomic copy number variations of the proband (Ⅲ-1) and his family members. Based on the results, prenatal diagnosis was performed for one pregnant woman (Ⅲ-2) in the pedigree who is the sister of the proband.Results:All karyotyping were normal in the family members, while aCGH results showed a 1 533 kb microduplication in the Xq25 region of the proband, his mother (Ⅱ-3), his uncle (Ⅱ-2), and his sister (Ⅲ-2), which was confirmed to be pathogenic. The proband and his uncle presented with intellectual disability, bradylalia, and facial dysmorphism. In contrast, his mother and sister showed normal phenotypes. His sister's fetal karyotype and aCGH results were normal, and the pregnancy continued. A male baby (Ⅳ-1) was delivered vaginally at term and showed no physical or intellectual abnormalities during a 46-month follow-up.Conclusions:Xq25 microduplication might be the cause of intellectual disability in the proband. STAG2 is probably the essential gene in Xq25 region.
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Objective:To analyze the indications for prenatal diagnosis and summarize the pregnancy outcomes and its influencing factors of pregnant women with fetal sex chromosome aneuploidy (SCA).Methods:This study retrospectively enrolled 1 372 fetuses prenatally diagnosed with SCA in Medical Genetics Center of Guangdong Women and Children Hospital from January 2013 to December 2021. The relationship between prenatal diagnosis indications and SCA as well as between ultrasound abnormalities, pregnancy outcomes and SCA types were analyzed by Chi-square test and trend Chi-square test. Results:The most common prenatal diagnosis indication was abnormal non-invasive prenatal testing (NIPT) (61.6%, 845/1 372). The most common SCA type was 47,XXY in cases with indications of abnormal NIPT and advanced maternal age, mosaic in cases with high or borderline risk of Down syndrome, and 45,X in cases with increased nuchal translucency or cystic hygroma. Of 1 372 pregnant women with fetal SCA, 17 were lost to follow-up, seven had intrauterine fetal death, and 1 348 (98.3%) were followed up for pregnancy outcomes including 36.3% (489/1 348) continued pregnancies and 63.7% (859/1 348) terminations. Pregnancy termination rates decreased sequentially in pregnant women carrying fetuses with 45,X, 47,XXY, mosaic, 47,XXX and 47,XYY [99.2% (247/249), 74.5% (307/412), 67.8% (156/230), 36.6% (86/235) and 28.4% (63/222), χ2trend=352.76, P<0.001]. There was no significant difference in pregnancy termination rates among the cases with different mosaic mutations (all P>0.05). The pregnancy termination rate was higher in fetuses with SCA complicated by ultrasound structural abnormalities than in those without ultrasound abnormalities and those with ultrasound soft markers [91.5% (182/199) vs 57.1% (535/937) and 67.0% (142/212), χ2 were 83.68 and 36.85, both P<0.001]. Moreover, the pregnancy termination rate in fetuses with SCA complicated by ultrasound soft markers was higher than those without ultrasound abnormalities ( χ2=7.13, P<0.05). Conclusions:NIPT abnormality is the most common indication for prenatal diagnosis of SCA. The types of SCA and ultrasound findings are important factors determining whether the pregnancy would be continued or not.
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Objective:To analyze fetal sex chromosome abnormalities in prenatal diagnosis based on amniotic fluid cell culture.Methods:Clinical data of 12 164 pregnant women who underwent amniocentesis in Maternal and Child Health Hospital of Hunan Province from January 2017 to December 2020 were retrospectively analyzed. For those diagnosed with fetal sex chromosome abnormalities, the results of karyotyping and chromosome microarray analysis (CMA) were analyzed and described.Results:(1) Among the 12 164 cases, fetal sex chromosome abnormalities were detected in 387 cases (3.2%), including 351 cases with abnormal sex chromosome karyotype and 36 with sex chromosome microdeletion/microduplication. (2) High-risk patients indicated by non-invasive prenatal test (NIPT) had the highest proportion of sex chromosomes abnormalities (74.2%, 287/387), followed by those with other ultrasound abnormalities (8.5%, 33/387), high risk of Down syndrome screening (7.0%, 27/387), advanced maternal age (4.7%, 18/387), history of adverse pregnant or delivery (3.3%, 13/387), and nuchal translucency thickening or cervical lymphatic hygroma (2.3%, 9/387). (3) Detected chromosome karyotype abnormalities included numerical abnormalities [73.2%(257/351)], mosaicism [18.8(66/351)], and structural abnormalities [8.0%(28/351)], among which, 47,XXY [46.7%(120/257)], 45,X/46,XX[48.5%(32/66)], and X chromosome deletion [39.3%(11/28)] were the most common, respectively. Among 36 sex chromosome microdeletions/microduplications cases, 15(41.7%) were with pathogenic copy number variation (CNV), including 14 cases of X chromosome microdeletion/microduplication; 7(19.4%) with benign CNV, and 14(38.9%) with CNV of unknown clinical significance. The fragment size [ M (min-max)] of the 15 pathogenic CNV was 1.68 Mb(0.37-9.20 Mb). Of the nine cases with microdeletions, seven were found with deletion in the Xp22.31 region. Conclusions:Numerical abnormalities are the most common fetal sex chromosome abnormalities detected from amniotic fluid samples. Others included mosaicism and chromosome structure abnormalities.
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BACKGROUND Panstrongylus rufotuberculatus (Hemiptera-Reduviidae) is a triatomine species with a wide geographic distribution and a broad phenotypic variability. In some countries, this species is found infesting and colonising domiciliary ecotopes representing an epidemiological risk factor as a vector of Trypanosoma cruzi, etiological agent of Chagas disease. In spite of this, little is known about P. rufotuberculatus genetic diversity. METHODS Cytogenetic studies and DNA sequence analyses of one nuclear (ITS-2) and two mitochondrial DNA sequences (cyt b and coI) were carried out in P. rufotuberculatus individuals collected in Bolivia, Colombia, Ecuador and Mexico. Moreover, a geometric morphometrics study was applied to Bolivian, Colombian, Ecuadorian and French Guiana samples. OBJECTIVES To explore the genetic and phenetic diversity of P. rufotuberculatus from different countries, combining chromosomal studies, DNA sequence analyses and geometric morphometric comparisons. FINDINGS We found two chromosomal groups differentiated by the number of X chromosomes and the chromosomal position of the ribosomal DNA clusters. In concordance, two main morphometric profiles were detected, clearly separating the Bolivian sample from the other ones. Phylogenetic DNA analyses showed that both chromosomal groups were closely related to each other and clearly separated from the remaining Panstrongylus species. High nucleotide divergence of cyt b and coI fragments were observed among P. rufotuberculatus samples from Bolivia, Colombia, Ecuador and Mexico (Kimura 2-parameter distances higher than 9%). MAIN CONCLUSIONS Chromosomal and molecular analyses supported that the two chromosomal groups could represent different closely related species. We propose that Bolivian individuals constitute a new Panstrongylus species, being necessary a detailed morphological study for its formal description. The clear morphometric discrimination based on the wing venation pattern suggests such morphological description might be conclusive.
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Historically, there are divergences in the species allocation between Centromochlus and Tatia. This study aimed to generate the first cytogenetic data about Centromochlus and, by analyzing a population of Centromochlus heckelii from the Amazon River basin, to contribute as evidence to a historical taxonomic dilemma. Diploid number of 46 chromosomes and a heteromorphic pair was found in the female karyotypes, thus characterizing a ZZ/ZW sex chromosome system. Pale blocks of heterochromatin were located in centromeric regions of some chromosomes; however, the exclusive female chromosome (W) is almost entirely heterochromatic. AgNORs were detected in terminal position on the short arms of one acrocentric pair in males and two chromosome pairs in females, the acrocentric plus the sex chromosome pair. Notable differences between Centromochlus heckelii and previous data about species of Tatia are: lower diploid number, presence of a sex chromosome system and multiple AgNORs in Centromochlus, while species of Tatia have simple AgNORs and the absence of acrocentric chromosomes. Results in this study show that chromosomal markers could contribute as evidence to taxonomic delimitation studies.(AU)
Historicamente, há divergências na alocação de espécies entre Centromochlus e Tatia. Este estudo teve como objetivo gerar os primeiros dados citogenéticos para Centromochlus e, através da análise de uma população de Centromochlus heckelii da bacia do rio Amazonas, contribuir como evidência para o dilema histórico taxonômico. Foi encontrado o número diploide de 46 cromossomos e um par heteromórfico nos cariótipos das fêmeas, o que caracteriza um sistema sexual ZZ/ZW. Blocos pálidos de heterocromatina foram localizados na região centromérica de alguns cromossomos; no entanto, o cromossomo exclusivo das fêmeas (W) se apresenta quase todo heterocromático. As AgRONs foram detectadas na posição terminal do braço curto de um par acrocêntrico nos machos e em dois pares cromossômicos nas fêmeas, um par de cromossomos acrocêntricos e o par sexual. Notáveis diferenças entre os dados cromossômicos de Centromochlus heckelii e os dados anteriores das espécies de Tatia são: menor número diploide, presença de sistema de cromossomos sexuais e AgRONs múltiplas em Centromochlus, enquanto espécies de Tatia apresentam AgRON simples e ausência de cromossomos acrocêntricos. Resultados deste estudo mostram que marcadores cromossômicos podem contribuir como evidência para estudos de delimitação taxonômica.(AU)
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Animals , Catfishes , Cytogenetic Analysis , Cytogenetics , Genetic Markers , Amazonian EcosystemABSTRACT
Objective@#To investigate the impact of maternal X chromosome aneuploidies on cell free DNA (cf-DNA) prenatal screening.@*Methods@#After genetic counseling, invasive prenatal diagnosis was provided for the 124 cases with high risk of sex chromosome aneuploidie (SCA) indicated by cf-DNA prenatal screening. For cases with discordant results of fetal prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte was collected for copy number variation sequencing (CNV-seq) to detect whether the maternal X chromosome was carrying variations.@*Results@#Totally, 124 cases with high risks of SCA indicated by cf-DNA prenatal screening, 9 cases refused to take invasive prenatal diagnosis, while the remaining 115 cases received. Among the 115 cases, 41 cases received accordant results with cf-DNA prenatal screening while 74 cases discordant. Among the 74 cases with discordant results, 19 cases were indicated with maternal X chromosome variations by maternal leukocyte CNV-seq, which accounting for 25.7% (19/74) of the SCA false positive cases, and 15.3% (19/124) of all SCA cases.@*Conclusions@#Pregnant women with X chromosome variations may affect the results of cf-DNA prenatal screening, resulting in false positive or false negative outcomes, it should be emphasized that the cf-DNA results may be affected by maternal X chromosome variations. In cases with discordant results of prenatal diagnosis and cf-DNA prenatal screening, maternal leukocyte CNV-seq is recommended to find the reasons of false positive or negative results. And cf-DNA prenatal screening is not recommended for pregnant women who are already known with X chromosome variations.
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@#45,X/46,XY mosaicism is a rare disorder with a wide heterogeneity in its manifestations. An 18-year-old girl was referred to the endocrine clinic for investigation of her primary amenorrhea. Clinical examination was unremarkable. Hormonal profile was consistent with primary ovarian insufficiency and human chorionic gonadotropin (hCG) stimulation did not show evidence of active testicular tissue. Karyotyping studies by G-banding revealed a 45,X/46,XY karyotype. She was diagnosed with mosaic Turner syndrome with Y chromosomal material and investigation was performed to identify the presence of male gonads due to the risk of gonadal malignancy. Magnetic resonance imaging (MRI) of the pelvis did not show evidence of gonads. Laparoscopic exploration was proposed but the patient and parents refused opting for conservative management. This case highlights the challenges in the management of this rare condition.
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Gonadal Dysgenesis, Mixed , Turner Syndrome , Y ChromosomeABSTRACT
The Chinese softshell turtle exhibits ZZ/ZW sex determination. To identify the sex of embryos, juvenile and adult individuals, we designed two pairs of polymerase chain reaction primers, SB1-196, which amplifies a fragment of 196 bp in the female and the other, CK1-482, which amplifies the 482-bp fragment in both the sexes. It is validated in 24 adult turtles of known sex, sampled from three different locations. This one-step sexing technique is rapid and easy to perform and is reported for the first time.
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Objective: To investigate the value of ultrasound and noninvasive prenatal DNA testing (NIPT) in diagnosis of fetal sex chromosome abnormalities. Methods: Chromosomal data of prenatal diagnosis of 8 792 high-risk pregnant women were retrospectively analyzed. The detection rate of fetal chromosomal abnormalities of ultrasound and NIPT was analyzed, and the pregnancy outcomes of fetuses with sexual chromosome abnormalities were observed. Results: There were 144 fetuses (144/8 792, 1.64%) with abnormal sex chromosomes, 5 (5/8 792, 0.06%) with abnormal chromosome structures and 139 with abnormal number of sex chromosomes (139/8 792, 1.58%), including 32 with 45, X (Turner syndrome), 22 with 45, X chimera, 44 with 47, XXY (Klinefelter syndrome), 3 with 47, XXY chimera, 23 with 47, XXX, 11 with 47, XYY, 3 with other abnormal of numbers and 1 with 45, X [15] /46, XX [40] male sexual reversal. Among 144 fetal chromosomal abnormalities, 73 (73/144, 50.69%) were detected with ultrasound. Totally 77 fetuses were screened by NIPT, and 75 (75/77, 97.40%) sexual chromosome abnormalities were detected. Among 32 fetuses with 45, X, 31 were found with structural abnormalities by ultrasound including 28 cystic hygromas, and 32 were then induced, while in 112 fetuses with other type of sex chromosome abnormalities, pregnancy was chosen to be continued in 42 (42/112, 37.50%) cases. Conclusion: NIPT is of great value in detection of sex chromosome abnormalities. 45, X should be highly suspected when cystic hygroma is found in prenatal ultrasound screening.
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Objective@#To investigate the value of karyotype analysis, bacterial artificial chromosomes-on-beads (BoBs), chromosome microarray analysis (CMA) and fluorescence in situ hybridization (FISH) in the diagnosis of sex chromosome numerical and structural abnormalities.@*Methods@#Conventional G-banding staining technique was used to analyze the karyotypes of amniotic fluid cells and parental peripheral blood cells in two pregnancies with prenatal diagnosis indications. Sex chromosome numerical and structural abnormalities were analyzed based on the results of G-banding, BoBs, CMA and FISH.@*Results@#The results of G-banding karyotype analysis showed that there were mosaics in amniotic fluid cells collected from both cases. Karyotype of Case A was 45,X[25]/46,X,idic(Y)(q11.2?)[6], and Case B was 45,X[39]/46,X,psu idic(X)(q21.32?)[44]. Parental peripheral blood karyotypes of both families were normal. Prenatal BoBs indicated copy number abnormalities in sex chromosomes (Y chromosome in Case A and X chromosome in Case B). CMA results suggested a 20.1 Mb duplication in Yp11.32q11.222, and a 7.7 Mb deletion in Yq11.222q11.23 in fetus A with possible karyotype of 46,X,idic(Y)(q11.222); for fetus B, a 92.0 Mb duplication in Xp22.33q21.32, and a 63.0 Mb deletion in Xq21.32q28 were detected, and the karyotype might be 46,X,psu idic(X)(q21.32). The mid-term FISH test of amniotic fluid cells showed that 90% of the amniotic cells from Case A were 45,X, and 10% were 46,X,idic(Y)(q11.2); about 38% were 45,X, and 62% were 46,X,psu dic(X)(q21.3) from Case B.@*Conclusions@#Numerical and structural abnormalities of sex chromosomes could be accurately diagnosed by combination of several methods including G-banding karyotype analysis, prenatal BoBs, CMA and FISH, which would help to effectively reduce birth defects.
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Turner syndrome (TS) is a common disorder (1/2.000 women) that affects multiple organs at different stages of life and needs a multidisciplinary approach. It can be present in women of all ethnicities and is caused by a monosomy of the X chromosome that causes a haploinsufficiency of certain genes. Its main features consist of specific but variables physical characteristics, congenital heart defects, renal anomalies, middle and inner ear diseases, skeletal alterations, and from the endocrinological point of view, short stature and ovarian insufficiency. Given the comorbidities associated with TS, it has been estimated that they have an increased risk of mortality (up to 3 times more) and a reduction in life expectancy of approximately 13 years. Depending on the genotype, the abnormalities can become very subtle, in these cases the diagnosis is late, when the adolescent consults, for example, for primary amenorrhea or an adult woman for infertility. Once the diagnosis is confirmed by a karyotype, these patients must remain in pediatric control in a continuous way to investigate associated pathologies in a timely manner, with periodic evaluations by specialists, such as otolaryngologists, cardiologists, neurologists and endocrinologists, among others. Numerous advances in the care of these patients gave rise to new guidelines published in 2017. In this article we will comment on the main conditions associated with TS and its specific etiology, we will mention what is relevant regarding the genotype-phenotype relationship in this syndrome and we will discuss the fundamental aspects of the control of the TS patient, with emphasis on the treatment of short stature and ovarian insufficiency, as well as the cardiovascular aspects and those related to fertility.
El Síndrome de Turner (ST) es una patología frecuente (1/2.000 mujeres) que afecta múltiples órganos en distintas etapas de la vida y necesita un enfoque multidisciplinario. Se produce por una monosomía del cromosoma X que provoca una haploinsuficiencia de determinados genes. Sus características principales consisten en un fenotipo característico pero variable, con presencia de cardiopatías congénitas, anomalías renales, enfermedades del oído medio e interno, alteraciones esqueléticas, y del punto de vista endocrinológico, talla baja e insuficiencia ovárica. Dadas las comorbilidades asociadas al ST, principalmente cardiovasculares (CV), presentan mayor mortalidad con respecto a la población general (hasta 3 veces más). Dependiendo del genotipo, las anomalías pueden llegar a ser muy sutiles, realizándose en estos casos el diagnóstico en forma tardía, cuando la adolescente consulte, por ejemplo, por amenorrea primaria o una mujer adulta por infertilidad. Una vez confirmado el diagnóstico mediante un cariotipo, estas pacientes deben permanecer en control endocrinológico pediátrico en forma continua hasta la transición hacia adultos, con el fin de pesquisar patologías asociadas en forma oportuna. Por ello requieren evaluaciones periódicas por especialistas, tales como otorrinolaringólogos, cardiólogos, neuropsiquiatras, entre otros. Numerosos avances en el cuidado de estas pacientes, dieron origen a nuevas guías publicadas el 2017. En este artículo comentaremos sobre las principales condiciones asociadas al ST y su etiología específica, mencionaremos lo relevante respecto a la relación genotipo-fenotipo en este síndrome y discutiremos los aspectos fundamentales del control de la paciente con ST, haciendo énfasis en el tratamiento de la talla baja y la insuficiencia ovárica, así como los aspectos CV y los relacionados a fertilidad.
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Humans , Female , Child , Adolescent , Turner Syndrome/complications , Turner Syndrome/diagnosis , Turner Syndrome/genetics , Otorhinolaryngologic Diseases/etiology , Turner Syndrome/drug therapy , Estrogen Replacement Therapy , Estrogens/therapeutic use , Gonadal Dysgenesis/etiology , Growth Disorders/etiology , Heart Defects, Congenital/etiology , Infertility, FemaleABSTRACT
Introduction: Klinefelter Syndrome is one of most common sex chromosomal abnormality in males with incidenceof 1 in 600 live births. Fluorescence in situ hybridization (FISH) is a powerful molecular cytogenetic techniquewhich allows rapid detection of aneuploidies on interphase cells and metaphase spreads along with conventionalGTG banding technique.Aims and objectives: To evaluate application of karyotyping and FISH as important diagnostic tool in diagnosisKlinefelter Syndrome.Materials and Methods: A retrospective study was conducted on 44 patients who were referred for karyotypingand counselling with suspected Klinefelter Syndrome and hypogonadism to Division of Human Genetics,Department of Anatomy, St. John’s Medical College, Bangalore from January 2014 to October 2017. Chromosomalpreparations were done using the peripheral lymphocyte culture method followed by GTG banding technique,automated photography and karyotyping.FISH was performed with dual colour X/Y probes once abnormality was detected using GTG banding technique.Results: Out of 44 patients, 9 had typical karyotype of Klinefelter syndrome (47,XXY) and Four had variants ofKlinefelter syndromeConclusion: We can conclude that cytogenetic analysis forms important investigation in diagnosis , treatmentand fertility status in patients with Klinefelter syndrome.
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Objective To assess the positive predictive value (PPV) of fetal sex chromosome aneuploidy (SCA) identified by non-invasive prenatal testing (NIPT) and investigate families' acceptance of SCA fetus. Methods All suspected SCA cases screened by NIPT from singletons were reviewed in Prenatal Diagnosis Center of Shanghai First Maternity and Infant Hospital from April 1, 2015 to October 31, 2017. Maternal age, NIPT indications, prenatal diagnosis protocols, testing results and their pregnancy determinations were analyzed. Results NIPT was provided to 35827 singletons and 86 suspected SCA cases were identified out of 35823 successful ones, giving a positive detection rate of 0.24％. The average maternal age was (31.5±5.0) years. After genetic counseling, 20 patients declined prenatal diagnosis,the rest 66 cases proceeded with aminiocentesis and fetal chromosomal testing, of which 32 were cytogenetically diagnosed as SCA with the PPV of 48.5％ . The SCA fetus consisted of 25 sex chromosome trisomies (seven cases of 47,XXX, three cases of 47,XYY and 15 cases of 47,XXY), one monosomy X (45,X), three mosacisms (47,XXY/48,XXYY, 47,XXX/45,X, 45,X/46,XX, one for each) and three microdeletions/microduplications. Besides, two false positive NIPT cases were proved to be low level of maternal mosacism (45,X/46,XX, 5％ and 10％ for each). After genetic counseling, 17 out of 20 who declined prenatal diagnosis and 9 out of 32 who diagnosed fetal SCAs continued their pregnancies, with a combined proportion of continued pregnancy of 50％. Thirty-four pregnancies were also continued after exclusion of SCA. Interestingly, the proportion of continued pregnancy among those sex chromosomal trisomy fetuses was only 32％(8/25). Conclusions As a safe and rapid prenatal testing for common autosomal aneuploidies, NIPT could also identify some types of SCA, but with relatively low PPV. More long-term researches are required to determine its sensitivity and specificity. For some types of SCA with mild phenotypes, some family would continue the pregnancy. Therefore, limitations of NIPT should be appropriately explained during both pre- and post-testing counseling.
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Objective@#To investigate the pathologic features of gonadal tissues of disorders of sexual development (DSD) in children.@*Methods@#Fifty-three cases of gonadal developmental disorders were collected from July 2015 to August 2017 at Guangzhou Women and Children′s Medical Center. Clinical manifestations, karyotypes, sex hormone levels, ultrasound imaging, histology and immunophenotype of gonadal tissues were analyzed.@*Results@#The age of patients ranged from 7 months to 17 years with an average of (50.7 ± 47.1) months. Social genders of the patients included 32 males and 21 females. Forty-eight patients had abnormal sex hormone levels. Clinical presentations included: toward female genitalia in 25 cases, male genitalia tendency in 17 cases and ambiguous external genitalia in 11 cases. Hypospadias was seen in 31 cases and short stature was seen in 8 cases. Chromosomal karyotyping of peripheral blood revealed 23 cases of sex chromosome disorders, 22 cases of 46 XY disorders, of which 3 cases were 5α-reductase deficiency and 8 cases of 46 XX disorders. Ultrasound examination showed cryptorchidism in 30 cases, including 16 cases of unilateral, 14 cases of bilateral and 1 case presenting a huge pelvic tumor. A total of 97 gonadal tissues from 53 cases of DSD were examined, including 9 cases of unilateral and 44 cases of bilateral gonads. Microscopically, 55 gonads (56.7%) showed dysplastic testes including 17 unilateral and 19 bilateral gonads. Fourteen were streak gonads (14.4%) including 8 unilateral and 3 bilateral gonadal tissues. Nine streak gonad with epithelial cord-like structures (9.3%) were found, of which 5 were unilateral and 2 were bilateral lesions. Seven gonads were ovotestis (7.2%), unilateral in 5 cases (the other side of the gonads of ovary in 4 cases, 1 case of dysplastic testes) and bilateral in 1 case. Seven gonads showed follicular-rich ovarian tissue (7.2%). One case showed bilateral dysplastic testes with gonadoblastoma and ectopic adrenal cortex. One case of streak gonad showed epithelial cord-like structures and undifferentiated glandular tissue embedded in malignant mixed germ cell tumors (mixed gonadoblastoma, dysgerminoma, mature teratoma and yolk sac tumor). One case had testicular microlithiasis. Uterus and fallopian tube structures were found in 11 cases. Immunohistochemical stains were performed in 15 cases. D2-40, PLAP and CKIT were expressed in germ cells and Calretinin, WT1 and inhibin were positive in Setoli cells. SALL4 and OCT3/4 were positive in 3 cases. Inhibin highlighted interstitial Leydig cells in 2 cases. GPC3 was positive in yolk sac tumor component.@*Conclusions@#Gonadal dysgenesis presents a broad spectrum of gonadal phenotypes with variable degrees of differentiation. The development of bilateral gonadal tissues has certain variability. Chromosomal karyotypes have no correlation with gonadal phenotypes. Accurate histopathologic diagnosis of gonadal dysgenesis plays an important role in the treatment and prognosis of the patient.
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Turner Syndrome (TS) is a common X sex chromosome abnormality syndrome. Its main clinical features are growth retardation and germinal aplasia. The study found that the incidence of thyroid abnormalities in patients with TS was higher than that in the general population. This article reviews the clinical features and mechanisms of thyroid abnormalities in patients with TS.
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We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a normal 46,XX karyotype, whereas the father exhibited a 46,XY,der(15)t(Y;15) karyotype. We performed cytogenetic analysis of the father's family as a result of the father and confirmed the same karyotype in his mother and brother. Fluorescence in situ hybridization and quantitative fluorescent-polymerase chain reaction analysis identified the breakpoint and demonstrated the absence of the SRY gene in female members. Thus, the proband inherited this translocation from the father and grandmother. This makes the prediction of the fetal phenotype possible through assessing the grandmother. Therefore, we suggest that conventional cytogenetic and molecular cytogenetic methods, in combination with family history, provide informative results for prenatal diagnosis and prenatal genetic counseling.
Subject(s)
Female , Humans , Chromosomes, Human, Pair 15 , Cytogenetic Analysis , Cytogenetics , Fathers , Fetus , Fluorescence , Genes, sry , Genetic Counseling , Grandparents , In Situ Hybridization , Karyotype , Mothers , Parents , Phenotype , Prenatal Diagnosis , Sex Chromosome Aberrations , SiblingsABSTRACT
When evaluating the underlying causes of tall stature, it is important to differentiate pathologic tall stature from familial tall stature. Various pathologic conditions leading to adult tall stature include excess growth hormone secretion, Marfan syndrome, androgen or estrogen deficiency, testicular feminization, and sex chromosome anomaly, such as Klinefelter syndrome and XYY syndrome. Men with 47,XYY syndrome can exhibit multiple phenotypes. A 13-year-old boy visited the hospital for evaluation of tall stature. The boy had no other physical abnormalities except tall stature. All biochemical and imaging studies were within the normal ranges. He was diagnosed with XYY syndrome in this chromosome study. When evaluating men with tall stature, XYY syndrome should be ruled out.
Subject(s)
Adolescent , Adult , Humans , Male , Androgen-Insensitivity Syndrome , Estrogens , Growth Disorders , Growth Hormone , Klinefelter Syndrome , Marfan Syndrome , Phenotype , Reference Values , Sex Chromosome Disorders , Sex ChromosomesABSTRACT
Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and analyzes it with massively parallel sequencing technology to determine whether the fetus is at risk of trisomy 21, trisomy 18, trisomy 13 or sex chromosome abnormalities (SCAs). NIPT has been reported to have sensitivity of 99% and a false positive rate of less than 1% for detecting trisomy 21 and trisomy 18. Although extension of the application of NIPT to other SCAs has been attempted, there are concerns in extending NIPT to SCAs because of maternal or fetal mosaicism, undetected maternal SCAs, and multiple pregnancies. Recently, we assessed a pregnancy with the rare Turner syndrome mosaicism 45, X/47, XXX, which was reported as 45, X with NIPT. We present the case here and briefly review the current literatures on NIPT in testing for fetal monosomy X. To the best of our knowledge, this is the first report of the 45, X/47, XXX mosaicism in Korea to be reported as 45, X by NIPT with whole genome sequencing. This case report will provide valuable information for counseling women who want to undergo NIPT.
Subject(s)
Female , Humans , Pregnancy , Aneuploidy , Counseling , Diagnosis , DNA , Down Syndrome , Fetus , Genome , High-Throughput Nucleotide Sequencing , Korea , Mass Screening , Mosaicism , Plasma , Pregnancy, Multiple , Prenatal Diagnosis , Sex Chromosome Aberrations , Trisomy , Turner SyndromeABSTRACT
Introducción: el Diagnóstico Prenatal Citogenético utilizando las células del líquido amniótico, constituye, la principal modalidad en Cuba para realizar los estudios cromosómicos prenatales en aquellas embarazadas con riesgos de tener un niño afectado. Ojetivo: describir las principales alteraciones cromosómicas detectadas en el diagnostico prenatal citogenético en la Provincia de Pinar del Río a partir de enero del año 2007 hasta Diciembre del 2012. Material y método: se realizó un estudio descriptivo, retrospectivo en 2777 pacientes que fueron remitidos al Centro Provincial de Genética Médica para estudios prenatales. Los datos recopilados fueron: motivos de indicación, número y tipo de aberraciones cromosómicas detectadas y embarazadas con un diagnóstico prenatal de defectos congénitos que decidieron continuar el embarazo. Resultados: durante esta etapa se realizaron un total de 2777 estudios cromosómicos prenatales; el motivo de indicación que más prevaleció fue la avanzada edad materna (75.62 % del total de los casos). Se diagnosticaron un total de 43 fetos con anomalías cromosómicas, incluyendo 28 casos con aneuploidías, 12 con reordenamientos estructurales y 3 mosaicos cromosómicos. Conclusiones: se trabajó con los criterios técnicos y diagnósticos establecidos internacionalmente para este tipo de estudios, el por ciento de positividad fue de 1.54 y los resultados obtenidos fueron similares a los reportados por otros estudios.
Introduction: the Cytogenetic Prenatal Diagnosis using amniotic liquid cells contitutes the main resource in Cuba to carry out cromosomal studies in pregnant women with risk of having an afected baby. Objective: to describe main chromosomal disorders detected in the cytogenetic prenatal diagnosis in Pinar del Río Province from January 2007 to December 2012. Material and method: a descriptive, retrospective study was carried out of 2,777 patients referred to the Province Center of Medical Genetics for prenatal studies. Compiled data were: referral causes, number and types of detected chromosomal disorders, and pregnant women with a prenatal diagnosis of congenital malformations, who decided for complete gestation. Results: during that period a sheer number of 2,777 prenatal chromosomal studies were carried out. The prevalent referral cause was advanced maternal age (75.62% of all cases). A total of 43 fetuses with chromosomal abnormalities, including 28 cases with aneuploidies, 12 with structural reorderings and 3 chromosomal mosaics. Conclusions: the work was done under diagnostical and technical internationally established criteria for these types of studies, the positiveness percentage was 1.54 and the results obtained were similar to those reported by other studies.