| A gene for cleidocranial dysplasia maps to the short arm of chromosome 6. | |
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MedLine Citation:
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PMID: 7717404 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cleidocranial dysplasia (CCD) is an autosomal dominant generalized bone dysplasia characterized by mild-to-moderate short stature, clavicular aplasia or hypoplasia, supernumerary and ectopic teeth, delayed eruption of secondary teeth, a characteristic craniofacial appearance, and a variety of other skeletal anomalies. We have performed linkage studies in five families with CCD, with 24 affected and 20 unaffected individuals, using microsatellite markers spanning two candidate regions on chromosomes 8q and 6. The strongest support for linkage was with chromosome 6p microsatellite marker D6S282 with a two-point lod score of 4.84 (theta = .03). Furthermore, the multipoint lod score was 5.70 in the interval between D6S282 and D6S291. These data show that the gene for autosomal dominant CCD is located within a 19-cM interval on the short arm of chromosome 6, between D6S282 and D6S291. |
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Authors:
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G J Feldman; N H Robin; L A Brueton; E Robertson; E M Thompson; J Siegel-Bartelt; D L Gasser; L C Bailey; E H Zackai; M Muenke |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of human genetics Volume: 56 ISSN: 0002-9297 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 1995 Apr |
Date Detail:
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Created Date: 1995-05-15 Completed Date: 1995-05-15 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 938-43 Citation Subset: IM |
Affiliation:
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Children's Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, PA 19104-4399, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Chromosome Mapping Chromosomes, Human, Pair 6* Cleidocranial Dysplasia / genetics* Female Humans Linkage (Genetics) Lod Score Male Pedigree |
| Grant Support | |
ID/Acronym/Agency:
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5T32HD07107/HD/NICHD NIH HHS; DE-09164/DE/NIDCR NIH HHS; R29HD28732/HD/NICHD NIH HHS |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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