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A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant.


Roos, A; Elbracht, M; Baudis, M; Senderek, J; Schönherr, N; Eggermann, T; Schüler, H M (2008). A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant. American Journal of Medical Genetics. Part A, 146A(18):2417-2420.

Abstract

Chromosome 13 deletions are associated with widely varying phenotypes but the clinical picture nearly almost includes mental and growth retardation, craniofacial dysmorphisms, and/or malformations. Several attempts have been made to link monosomy 13q intervals with specific clinical features, but a genotype-phenotype correlation could not be delineated. We report on a woman with a normal phenotype and intelligence referred for chromosomal analysis because of recurrent abortions followed by reproductive loss. Conventional karyotyping revealed an interstitial deletion of chromosome 13q21. By SNP array analysis and FISH the deletion was shown to comprise nearly 10.7 Mb of euchromatic material. This region harbors several genes but an association with recurrent miscarriages has not yet been reported. This is the second report of a 13q21 deletion without psychomotoric retardation, dysmorphisms and malformations. Both cases indicate that this 13q21 deletion can be added to the growing list of euchromatic imbalances without obvious phenotypic abnormalities.

Chromosome 13 deletions are associated with widely varying phenotypes but the clinical picture nearly almost includes mental and growth retardation, craniofacial dysmorphisms, and/or malformations. Several attempts have been made to link monosomy 13q intervals with specific clinical features, but a genotype-phenotype correlation could not be delineated. We report on a woman with a normal phenotype and intelligence referred for chromosomal analysis because of recurrent abortions followed by reproductive loss. Conventional karyotyping revealed an interstitial deletion of chromosome 13q21. By SNP array analysis and FISH the deletion was shown to comprise nearly 10.7 Mb of euchromatic material. This region harbors several genes but an association with recurrent miscarriages has not yet been reported. This is the second report of a 13q21 deletion without psychomotoric retardation, dysmorphisms and malformations. Both cases indicate that this 13q21 deletion can be added to the growing list of euchromatic imbalances without obvious phenotypic abnormalities.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:07 Faculty of Science > Institute of Molecular Life Sciences
08 University Research Priority Programs > Systems Biology / Functional Genomics
04 Faculty of Medicine > Institute of Molecular Cancer Research
07 Faculty of Science > Institute of Molecular Cancer Research
Dewey Decimal Classification:570 Life sciences; biology
Language:English
Date:September 2008
Deposited On:31 Jan 2009 16:44
Last Modified:05 Apr 2016 12:56
Publisher:Wiley-Blackwell
ISSN:1552-4825
Publisher DOI:10.1002/ajmg.a.32465
PubMed ID:18698619
Permanent URL: http://doi.org/10.5167/uzh-12197

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