| Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome. | |
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MedLine Citation:
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PMID: 8135286 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Uniparental disomy is responsible for a proportion of cases in Prader-Willi, Angelman, and Wiedemann-Beckwith syndromes. In these syndromes, the chromosomes involved are thought to contain one or more imprinted genes. When two copies of the imprinted (inactivated) gene are inherited from a single parent through uniparental disomy or the active gene is deleted, the phenotype of the syndrome results. Our goal is to identify additional syndromes caused by uniparental disomy. Our approach is to select syndromes that appear to have more than one mode of inheritance and are occasionally associated with a cytogenetic abnormality. Given this criterion, we have chosen Brachmann-de Lange Syndrome (BDLS) to investigate since the phenotype is similar to that found in patients with dup(3q). We have studied 16 probands with BDLS and their parents using a multiplex of four PCR-based polymorphic loci on chromosome 3. None of the probands studied had uniparental disomy for chromosome 3 and all demonstrated normal biparental inheritance for at least one locus. Given these results, uniparental disomy of chromosome 3 does not appear to be a major contributor to the syndrome. Additionally, both maternally and paternally derived chromosome abnormalities have resulted in the dup(3q) phenotype and dominant inheritance of BDLS from both mildly affected mothers and fathers have been reported which suggests that imprinting is not involved in these syndromes. |
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Authors:
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L G Shaffer; J Overhauser; L G Jackson; D H Ledbetter |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 47 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1993 Sep |
Date Detail:
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Created Date: 1994-04-19 Completed Date: 1994-04-19 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 383-6 Citation Subset: IM |
Affiliation:
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Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Chromosomes, Human, Pair 3* DNA / analysis De Lange Syndrome / genetics* Female Humans Male Parents Polymerase Chain Reaction |
| Chemical | |
Reg. No./Substance:
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9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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