scholarly journals Prenatal diagnosis of sex chromosome mosaicism with two marker chromosomes in three cell lines and a review of the literature

2018 ◽  
Author(s):  
Jianli Zheng ◽  
Xiaoyu Yang ◽  
Haiyan Lu ◽  
Yongjuan Guan ◽  
Fangfang Yang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cell Lines ◽  
Sex Chromosome ◽  
Review Of The Literature ◽  
Chromosome Mosaicism ◽  
Marker Chromosomes

scholarly journals A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia

2013 ◽  
Vol 2013 ◽  
pp. 1-6
Author(s):  
Lei Zhang ◽  
Linda D. Cooley ◽  
Sonal R. Chandratre ◽  
Atif Ahmed ◽  
Jill D. Jacobson
Keyword(s):  
Cell Lines ◽  
Sex Chromosome ◽  
Ambiguous Genitalia ◽  
Team Approach ◽  
Hydroxylase Deficiency ◽  
Common Cause ◽  
Chromosome Y ◽  
Chromosome Mosaicism ◽  
Ovarian Stroma ◽  
21 Hydroxylase Deficiency

Disorders of sex development (DSD), formerly termed “intersex” conditions, arise from numerous causes. CAH secondary to 21-hydroxylase deficiency is the most common cause of DSD. Sex chromosome disorders, including sex chromosome mosaicism, are the second most common cause of DSD. We discuss a medically complex neonate with DSD presenting with ambiguous genitalia. Hormone levels suggested 21-hydroxylase deficiency. Molecular analysis revealed compound heterozygous mutations in the 21-hydroxylase gene (CYP21A2), confirming the diagnosis of CAH. Chromosome analysis revealed sex chromosome mosaicism with three cell lines: 45,X[8]/45,X,tas(Y;16)(p11.32;p13.3)[8]/45,X,t(Y;8)(p11.32;p23.3)[4] with the Y chromosome in telomere association with chromosomes 8p and 16p in different cell lines, a “jumping translocation.” Histologically, the right gonad had irregular, distended seminiferous tubules with hyperplastic germ cells contiguous with ovarian stroma and primordial follicles. The left gonad had scant ovarian stroma and embryonic remnants. Chromosome analyses showed mosaicism in both gonads: 45,X[17]/45,X,tas(Y;8)(p11.32;p23.3)[3]. This is the first case of coexisting CAH and 45,X/46,XY mosaicism reported in the English literature and the third case of a constitutional chromosome Y “jumping translocation.” Our report documents the medical and genetic complexity of children such as this one with ambiguous genitalia and discusses the need for a multidisciplinary team approach.

Prenatal diagnosis of trisomy 21 and X/XX sex chromosome mosaicism

1985 ◽  
Vol 5 (4) ◽  
pp. 295-298 ◽  
Author(s):  
Maureen M. McCorquodale ◽  
Theresa Cummins ◽  
Judith Furlong
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Sex Chromosome ◽  
Chromosome Mosaicism

scholarly journals The Karyotype Analysis of Sex Chromosome Mosaicism in Prenatal Diagnosis and Their Clinical Outcomes

2020 ◽  
Author(s):  
Shuang Hu ◽  
Ning Lu ◽  
Xiangdong Kong
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Clinical Outcomes ◽  
Sex Chromosome ◽  
Fetal Malformation ◽  
Abnormal Karyotype ◽  
Chromosome Mosaicism ◽  
Abnormal Pregnancy ◽  
Chromosomal Diseases

Abstract Objective To analyze the karyotype of sex chromosome mosaicism in our prenatal diagnosis of 14034 pregnant women in their second trimester, and report the rate of sex chromosome mosaicism and their clinical outcomes.Methods A retrospective analysis of cytogenetic studies of 14043 cases of pregnant women from the Genetic Counseling Clinic from May 2017 to January 2020 by amniocentesis, were performed. Results A total of 46 cases of sex chromosome mosaicism were found, and the sex chromosome mosaicism rate was 0.328%, mainly including four types of mosaicism: mos45,X/46,XX(12); mos45,X/46,XY (11); mos47XXX(or XXY or XYY)/46XX(or XY)(11); and other types of complex abnormal karyotype mosaic(12). Among the 46 fetuses with sex chromosome mosaicism, the indications of prenatal diagnosis includes the numerical abnormality of sex chromosome by NIPT(23/46)，the high risk of trisomy 21 by serum screening(12/46)，abnomal ultrosound(4/46), the advanced maternal age(age ≥35)(4/46), and the histories of abnormal pregnancy(3/46). According to the results of cytogenetic analysis and genetic counseling, the pregnant women would decide to continue or terminate their pregnancy. Conclusion Prenatal cytogenetic diagnosis by amniocentesis is an accurate and convenient method and helps to avoid the delivery of fetuses with chromosomal diseases and reduce the risk of fetal malformation.

Experience of prenatal diagnosis of true knots of the umbilical cord during ultrasound examination in the third trimester of gestation

2019 ◽  
Author(s):  
M.Y. Morozova, V.V. Zotov, M.S. Kovalenko et all
Keyword(s):  
Prenatal Diagnosis ◽  
Umbilical Cord ◽  
Ultrasound Examination ◽  
Technological Advance ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Review Of The Literature ◽  
Third Trimester ◽  
The Third

Despite the rapid technological advance, the expansion of prenatal ultrasound diagnosis, as well as the accumulation of experience by both domestic and foreign experts, prenatal recognition of true knots of the umbilical cord causes significant difficulties. Three cases of successful ultrasound diagnosis of true knots of the umbilical cord and brief review of the literature are presented.

Meconium peritonitis: review of literature and own clinical observations

2020 ◽  
Author(s):  
E.N. Glavatskaya , O.V. Pribushenya , N.A. Venchikova
Keyword(s):  
Prenatal Diagnosis ◽  
Premature Birth ◽  
Surgical Care ◽  
Intestinal Wall ◽  
Meconium Peritonitis ◽  
Review Of Literature ◽  
Review Of The Literature ◽  
Clinical Observations ◽  
Loop Expansion ◽  
The Impact

Two clinical cases of meconium peritonitis in the fetuses are presented. The diagnosis was made prenatally at 30+5 and 20+1 weeks of gestation. The main ultrasound signs were ascites, loop expansion and thickening of the intestinal wall, peritoneal calcifications, meconium pseudocysts. In one case, pregnancy was complicated by polyhydramnios. In both cases, the pregnancy ended in premature birth, followed by surgical treatment during the first days of life. A review of the literature on the topic are discussed the etiology, the spectrum and frequency of ultrasound signs suggesting this condition in the fetus, the effectiveness of prenatal diagnosis, the prognosis for the life and health of the newborn, as well as the impact of the quality and timeliness of the prenatal diagnosis on the management of pregnancy and timeliness of surgical care for the newborn.

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