45,X/47,XXX Mosaicism and Short Stature

Abstract

We describe the case of a ten-year-old girl with short stature and 45,X/47,XXX genotype. She also suffered from vesicoureteric reflux and kidney dysfunction prior to having surgery on her ureters. Otherwise, she does not have any of the characteristics of Turner nor Triple X syndrome. It has been shown that this mosaic condition as well as other varieties creates a milder phenotype than typical Turner syndrome, which is what we mostly see in our patient. However, this patient is a special case, because she is exceptionally short. Overall, one cannot predict the resultant phenotype in these mosaic conditions. This creates difficulty in counseling parents whose children or fetuses have these karyotypes.

An assessment of the analytical performance of non‐invasive prenatal testing (NIPT) in detecting sex chromosome aneuploidies: 34,717‐patient sample in a single prenatal diagnosis Centre in China

“…Sex chromosome aneuploidies (SCAs) are chromosome disorders caused by the loss or gain of one or more sex chromosomes, typically recognized to link with genetic diseases such as Turner syndrome (45,X), trisomy X (47,XXX), Klinefelter syndrome (47,XXY) and Jacob syndrome (47,XYY). 1,2 Conventional methods for detecting chromosome aneuploidies require invasive procedures, including chorionic villus sampling and amniocentesis. The overall prevalence of SCAs in the general population is 0.19%, although these disorders are underdiagnosed and the specific genetic mechanisms underlying the phenotypes are poorly understood.…”

Systematic analysis of the causes of NIPS sex chromosome aneuploidy false‐positive results

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Chromosomal aneuploidies are one of the most serious types of birth defects. Trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome), trisomy 13 (Patau syndrome), and sex chromosome aneuploidies (SCAs) are known as the most common chromosomal aneuploidies (Everest et al, 2015). Fetal SCAs are caused by the presence of an abnormal number of sex chromosomes (X, or Y) in a cell, and 45,X (Turner syndrome); 47,XXX (Triple X syndrome); 47,XYY (Klinefelter syndrome); 47,XXY are among those recognized (Visootsak & Graham Jr, 2009).Recently, non-invasive prenatal testing (NIPT) for fetal aneuploidies based on circulated fetal DNA in the maternal

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Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature

“…Those not written in English or in which the relevant information was largely missing were excluded. Finally, 26 articles that described 45 patients were selected (Acharya, Jonsrud, van der Hagen, & Maltau, 2003;Akbas et al, 2009;Alves & Silva, 2012;Blair et al, 2001;Bouchlariotou et al, 2011;Eblen & Nakajima, 2003;Everest et al, 2015;Hadnott, Gould, Gharib, & Bondy, 2011;Hishimura-Yonemaru et al, 2017;Improda et al, 2012;Kivinen & Herva, 1980;Kristesashvili, Chipashvili, Jorbenadze, & Greydanus, 2012;Lim et al, 2017;Liu et al, 2013;Lunding et al, 2015;Maciejewska-Jeske, Czyzyk, & Meczekalski, 2015;Martin, Smith, Hughes, & Morrison, 2018;Mavridi et al, 2018;Palmer & Reichmann, 1976;Sahinturk et al, 2015;Saikia, Sarma, & Yadav, 2017;Sybert, 2002;Tauchmanova et al, 2001;Terao, Hashimoto, Nukina, Mannen, & Shinohara, 1996;Venkateshwari et al, 2012;Wang, Yang, Li, & Mu, 2015). Characteristics related to puberty, menstruation, fertility, ovarian function, and karyotypes of the previously reported patients and those of the present case are summarized in Table 1.…”