| Molecular and clinical characterization of patients with overlapping 10p deletions. | |
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MedLine Citation:
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PMID: 20425828 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Chromosome 10p terminal deletions have been associated with DiGeorge phenotype, and within the same genomic region haploinsufficiency of GATA3 causes the HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia). We have performed detailed molecular analysis of four patients with partial overlapping 10p deletions by using FISH-mapping, array-CGH, and custom-designed high-resolution oligonucleotide array. All four patients had mental retardation and speech impairment and three of them showed variable signs of HDR syndrome. In addition, two patients had autistic behaviors and had similar dysmorphic features giving them a striking physical resemblance. A review of the literature identified 10 previously published cases with similar 10p deletions and reliable molecular or molecular cytogenetic mapping data. The combined information of present and previous cases suggests that partial deletions of 10p14-p15 represent a syndrome with a distinct and more severe phenotype than previously assumed. The main characteristics include severe mental retardation, language impairment, autistic behavior, and characteristic clinical features. A critical region involved in mental retardation and speech impairment is defined within 1.6 Mb in 10p15.3. In addition, deletion of 4.3 Mb within 10p14 is associated with autism and characteristic clinical findings. |
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Authors:
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Anna Lindstrand; Helena Malmgren; Annapia Verri; Elisa Benetti; Maud Eriksson; Ann Nordgren; Britt-Marie Anderlid; Irina Golovleva; Jacqueline Schoumans; Elisabeth Blennow |
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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 May |
Date Detail:
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Created Date: 2010-04-28 Completed Date: 2010-08-12 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: 1233-43 Citation Subset: IM |
Affiliation:
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Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. anna.lindstrand@ki.se |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Child, Preschool Chromosome Aberrations Chromosome Deletion* Chromosomes, Human, Pair 10 / genetics* Female Gene Rearrangement / genetics Humans In Situ Hybridization, Fluorescence Infant Infant, Newborn Male Oligonucleotide Array Sequence Analysis Pregnancy |
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