| A girl with 15q overgrowth syndrome and dup(15)(q24q26.3) that included telomeric sequences. | |
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MedLine Citation:
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PMID: 20603595 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Distal 15q trisomy or tetrasomy is associated with a characteristic phenotype that includes mild to moderate intellectual disability, abnormal behavior, speech impairment, overgrowth, hyperlaxity, long face, prominent nose, puffy cheeks, pointed chin, small ears, and hand anomalies (mainly arachno- and camptodactyly). We present the case of a 13-yr-old girl with the main clinical features of 15q overgrowth syndrome and a 46,XX,dup(15)(q24q26.3)[117]/46,XX[3].ish dup(15)(q24q26.3) (SNPRN+,PML+,subtel++,tel++) de novo karyotype. The findings in this case are consistent with those in the previous distal 15q trisomy cases that presented with overgrowth and mental retardation. Further, the rearranged chromosome had a double set of directly oriented telomeric and subtelomeric sequences. |
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Authors:
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María de Los Angeles Gutiérrez-Franco; María de la Luz Madariaga-Campos; Ana I Vásquez-Velásquez; Esmeralda Matute; Roberto Guevara-Yáñez; Horacio Rivera |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The Korean journal of laboratory medicine Volume: 30 ISSN: 1598-6535 ISO Abbreviation: Korean J Lab Med Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-07-06 Completed Date: 2010-08-12 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101322822 Medline TA: Korean J Lab Med Country: Korea (South) |
Other Details:
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Languages: eng Pagination: 318-24 Citation Subset: IM |
Affiliation:
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Department of Genetics, Autonomous University of Guadalajara, Guadalajara, Mexico. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Chromosome Aberrations* Chromosomes, Human, Pair 15* Female Growth Disorders / diagnosis, genetics* Humans In Situ Hybridization, Fluorescence Mental Retardation / diagnosis, genetics* Syndrome Telomere / chemistry* |
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