| A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant. | |
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MedLine Citation:
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PMID: 18698619 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Andreas Roos; Miriam Elbracht; Michael Baudis; Jan Senderek; Nadine Schönherr; Thomas Eggermann; Herdit M Schüler |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 146A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2008 Sep |
Date Detail:
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Created Date: 2008-09-01 Completed Date: 2008-09-11 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2417-20 Citation Subset: IM |
Copyright Information:
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Copyright 2008 Wiley-Liss, Inc. |
Affiliation:
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Institute of Human Genetics, RWTH Aachen, Aachen, Germany. aroos@ukaachen.de |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abortion, Spontaneous
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etiology,
genetics Adult Chromosome Banding Chromosome Deletion* Chromosomes, Human, Pair 13 / genetics* Female Genotype Humans In Situ Hybridization, Fluorescence Karyotyping Oligonucleotide Array Sequence Analysis Phenotype Polymorphism, Genetic |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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