FAMILIAL ANEUPLOIDY: WHAT RISK TO SIBS?

1974 ◽  
Vol 16 (1) ◽  
pp. 113-119 ◽  
Author(s):  
A. G. Bell ◽  
Mary H. Cripps
Keyword(s):  
Sex Chromosome ◽  
Chromosome Abnormalities ◽  
Sex Chromosome Abnormalities ◽  
Sex Chromatin

Chromosome studies on the parents and sibs of subjects identified with numerical sex chromosome abnormalities through a sex chromatin and Y body survey of Toronto newborns have been performed. In 51 full sibs of 30 probands there were one XXY brother and one XYY brother of two different XXY subjects. No parental mosaicisms were demonstrated, although these were looked for in the parents of these two families. While no other aneuploidies were found in these sibs, other reports strongly suggests that the risk to sibs includes risk of autosomal anomalies as well.In addition to these findings in sibs, two of the XXY probands were found to be half-first cousins.

Sex-Chromatin and Sex-Chromosome Abnormalities in Male Hypogonadal Mental Patients

1965 ◽  
Vol 111 (476) ◽  
pp. 641-647 ◽  
Author(s):  
Johannes Nielsen ◽  
Margit Fischer
Keyword(s):  
Mental Illness ◽  
Sex Chromosomes ◽  
Mental Hospital ◽  
Sex Chromosome ◽  
Chromosome Abnormalities ◽  
Preliminary Step ◽  
Mental Patients ◽  
Sex Chromosome Abnormalities ◽  
Sex Chromatin

The present study is part of a sex-chromatin survey in a mental hospital. It has been made as a preliminary step in finding the prevalence and incidence of sex-chromosome abnormalities among patients with mental illness; and it also has the purpose of studying the psychopathological and genetic aspects of sex-chromosome abnormalities. The study comprises all clinically hypogonadal patients referred by the psychiatrists at this hospital to the cytogenic laboratory during a period of approximately 1 month. In a survey of this kind we can expect to find patients with certain abnormalities of the sex chromosomes.

The epidemiology of sex chromosome abnormalities

2020 ◽  
Vol 184 (2) ◽  
pp. 202-215
Author(s):  
Agnethe Berglund ◽  
Kirstine Stochholm ◽  
Claus Højbjerg Gravholt
Keyword(s):  
Sex Chromosome ◽  
Chromosome Abnormalities ◽  
Sex Chromosome Abnormalities

Efficiency of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies

2021 ◽  
pp. 1-9
Author(s):  
Yunfang Shi ◽  
Xiaozhou Li ◽  
Duan Ju ◽  
Yan Li ◽  
Xiuling Zhang ◽  
...  
Keyword(s):  
Screening Tool ◽  
Sex Chromosome ◽  
Diagnostic Testing ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Chromosome Abnormalities ◽  
Noninvasive Prenatal Testing ◽  
Sex Chromosome Abnormalities ◽  
Sex Chromosome Aneuploidies ◽  
Mosaic Karyotype

<b><i>Objective:</i></b> This study was designed to investigate the efficiency of noninvasive prenatal testing (NIPT) for screening fetal sex chromosome aneuploidies (SCAs) through sequencing of cell-free DNA in maternal plasma. <b><i>Methods:</i></b> This is a retrospective study on the positive NIPT results for SCAs collected from our hospital between January 2012 and December 2018. Samples with positive NIPT results for SCAs were then confirmed by prenatal or postnatal karyotyping analysis. <b><i>Results:</i></b> After cytogenetic analysis, abnormal karyotypes were confirmed in 104 cases and the overall positive predictive value (PPV) of NIPT for SCAs was 43.40% (102/235). The most frequently detected karyotypes included 47,XXY (<i>n</i> = 42), 47,XXX (<i>n</i> = 20), 47,XYY (<i>n</i> = 16), and 45,X (<i>n</i> = 2). Meanwhile, 10 cases were confirmed with mosaic karyotype 45,X/46,XX and 14 cases with numerical or structural chromosome abnormalities, including a double trisomy 48,XXX,+18. Cytogenetic results from the other 131 cases showed normal XX or XY, which were discordant with NIPT results. Upon analysis of parental karyotypes, 29 (12.34%) showed false positivity in NIPT results that were caused by maternal sex chromosome abnormalities. <b><i>Conclusion:</i></b> NIPT is an effective screening tool for SCA with a PPV of 43.40%. Maternal karyotype abnormalities occurred in 12.34% of the cases with abnormal NIPT. Diagnostic testing of the fetus and the mother are recommended.

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