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Analysis of non-disjunction in sex chromosome tetrasomy and pentasomy

✍ Scribed by Terry Hassold; Dorothy Pettay; Kristin May; Arthur Robinson

Book ID: 104658575
Publisher: Springer
Year: 1990
Tongue: English
Weight: 319 KB
Volume: 85
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00193591

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✦ Synopsis

X-linked DNA markers were used to determine the parental origin of the additional sex chromosomes in eight individuals with sex chromosome tetrasomy or pentasomy. In all cases studied, one parent contributed a single sex chromosome while the other parent contributed three or four sex chromosomes. Thus, it seems likely that most, if not all, sex chromosome tetrasomy and pentasomy is attributable to successive nondisjunctional events involving the same parent.

The availability of X-linked restriction fragment length polymorphisms (RFLPs) has made it possible to determine the parental origin of all sex chromosome abnormalities, and we have previously reported our observations on the 45,X (Hassold et al. 1988), 47,XXY (Jacobs et al. 1988), and 47,XXX (May et al. 1990) conditions. We have now extended our studies to include individuals with multiple additional sex chromosomes, and in the present report summarize our observations on a series of eight individuals with sex chromosome tetrasomy or pentasomy.

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