NDLI: Increased risk of trisomy 21 in offspring of carriers of balanced non-contributing autosomal rearrangements is not explained by interchromosomal effect

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Russian Journal of Genetics : Volume 49, Issue 1, January 2013

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Increased risk of trisomy 21 in offspring of carriers of balanced non-contributing autosomal rearrangements is not explained by interchromosomal effect

Content Provider	Springer Nature Link
Author	Kovaleva, N. V.
Copyright Year	2013
Abstract	Only relatively recently the suggestion that interchromosomal effect (ICE) may be present in man had stopped to be argued. At once it became evident that this phenomenon is inherent to a proportion of balanced chromosome rearrangement carriers, predominantly to patients with fertility problems. It is important to establish whether ICE operates in genome of fertile rearrangement carriers and to determine what kind of rearrangement and how far increases a risk of aneuploidy offspring. Using own and literature data 1) we have assessed rates of inherited non-contributing balanced rearrangements in patients with trisomy 21 (T21) and rates of both mutant and inherited non-contributing balanced rearrangements in parents of offspring with T21 and 2) we have analyzed a parental origin of T21 in affected offspring of carriers of balanced rearrangement. We have found that carriers of balanced reciprocal translocation or inversion, but not robertsonian translocation, are at increased risk of T21 offspring. However these data do not support the existence of ICE in its common sense, i.e. as an effect of rearrangement on other chromosome’s segregation at the carrier’s meiosis. Probably the data obtained suggest an effect of paternal rearrangements on maternal chromosomes segregation after fertilization.
Starting Page	228
Ending Page	236
Page Count	9
File Format	PDF
ISSN	10227954
Journal	Russian Journal of Genetics
Volume Number	49
Issue Number	2
e-ISSN	16083369
Language	English
Publisher	SP MAIK Nauka/Interperiodica
Publisher Date	2013-02-16
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Human Genetics Animal Genetics and Genomics Microbial Genetics and Genomics
Content Type	Text
Resource Type	Article
Subject	Genetics

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