| Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients. | |
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MedLine Citation:
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PMID: 20578134 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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During the last few years, an increasing number of microdeletion/microduplication syndromes have been delineated. This rapid evolution is mainly due to the availability of microarray technology as a routine diagnostic tool. Microdeletions of the 21q22.11q22.12 region encompassing the RUNX1 gene have been reported in nine patients presenting with syndromic thrombocytopenia and mental retardation. RUNX1 gene is responsible for an autosomal dominant platelet disorder with predisposition to acute myelogenous leukemia. We report on three novel patients with an overlapping "de novo" interstitial deletion involving the band 21q22 characterized by array-CGH. All our patients presented with severe developmental delay, dysmorphic features, behavioral problems, and thrombocytopenia. Comparing the clinical features of our patients with the overlapping ones already reported two potential phenotypes related to 21q22 microdeletion including RUNX1 were highlighted: thrombocytopenia with +/- mild dysmorphic features and syndromic thrombocytopenia with growth and developmental delay. |
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Authors:
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Eleni Katzaki; Gilles Morin; Marzia Pollazzon; Filomena Tiziana Papa; Sabrina Buoni; Joussef Hayek; Joris Andrieux; Laure Lecerf; Cornel Popovici; Aline Receveur; Michèle Mathieu-Dramard; Alessandra Renieri; Francesca Mari; Nicole Philip |
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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: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Jul |
Date Detail:
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Created Date: 2010-07-01 Completed Date: 2010-09-29 Revised Date: 2011-11-24 |
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: 1711-7 Citation Subset: IM |
Copyright Information:
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(c) 2010 Wiley-Liss, Inc. |
Affiliation:
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Medical Genetics, University of Siena, Siena, Italy. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Child Child, Preschool Chromosome Deletion* Chromosomes, Human, Pair 21 / genetics* Comparative Genomic Hybridization Female Humans Infant Infant, Newborn Intellectual Disability / complications*, genetics* Male Pregnancy Syndrome Thrombocytopenia / complications*, genetics* Young Adult |
| Grant Support | |
ID/Acronym/Agency:
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GTB07001//Telethon |
| Comments/Corrections | |
Comment In:
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Am J Med Genet A. 2011 Jan;155A(1):126-9
[PMID:
21204219
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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