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Complete trisomy 10p resulting from an extra stable telocentric chromosome

Complete trisomy 10p resulting from an extra stable telocentric chromosome To the Editor: Stable chromosome fission in humans was described for the first time in 1972 [Sinha et al., 1972 ]. Centric fission of a chromosome occurs after a break in the centromeric region resulting in the separation of the centromere into two portions, and consequently the formation of two stable telocentric chromosomes [Perry et al., 2004 ]. Only a few individuals with stable centric fission originating from different chromosomes have been documented so far [Janke, 1982 ; Del Porto et al., 1984 ; Shim et al., 2007 ; Cetin et al., 2011 ]. There is one report of a centric fission of chromosome 10 in a healthy woman who had two pregnancies with trisomy 10p, but there was no evidence of any clinical presentation or a record of the outcome of these pregnancies [Perry et al., 2005 ]. Another report of familiar transmission of centric fission products of chromosome 10 was observed in both a patient with a psychiatric disorder and his unaffected daughter [Fryns et al., 1980 ]. The vast majority of aberrations that result in “pure” trisomy 10p involve translocations of the short arm of chromosome 10 to the short arm of an acrocentric chromosome http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Complete trisomy 10p resulting from an extra stable telocentric chromosome

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References (20)

Publisher
Wiley
Copyright
Copyright © 2012 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.a.35384
pmid
22628287
Publisher site
See Article on Publisher Site

Abstract

To the Editor: Stable chromosome fission in humans was described for the first time in 1972 [Sinha et al., 1972 ]. Centric fission of a chromosome occurs after a break in the centromeric region resulting in the separation of the centromere into two portions, and consequently the formation of two stable telocentric chromosomes [Perry et al., 2004 ]. Only a few individuals with stable centric fission originating from different chromosomes have been documented so far [Janke, 1982 ; Del Porto et al., 1984 ; Shim et al., 2007 ; Cetin et al., 2011 ]. There is one report of a centric fission of chromosome 10 in a healthy woman who had two pregnancies with trisomy 10p, but there was no evidence of any clinical presentation or a record of the outcome of these pregnancies [Perry et al., 2005 ]. Another report of familiar transmission of centric fission products of chromosome 10 was observed in both a patient with a psychiatric disorder and his unaffected daughter [Fryns et al., 1980 ]. The vast majority of aberrations that result in “pure” trisomy 10p involve translocations of the short arm of chromosome 10 to the short arm of an acrocentric chromosome

Journal

American Journal of Medical Genetics Part A – Wiley

Published: Jul 1, 2012

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