| Brachmann-de Lange syndrome: autosomal dominant inheritance and male-to-male transmission. | |
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MedLine Citation:
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PMID: 8989466 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on familial occurrence of the Brachmann-de Lange syndrome (BDLS): a mildly affected father and his severely affected son and daughter who have different mothers. Both children are severely affected while the father has a much milder but definite BDLS phenotype. Our report documents the third example of male-to-male transmission and adds to the argument against exclusively maternal transmission in familial cases. In addition, our findings illustrate the occurrence of severe manifestations in cases of familial BDLS. |
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Authors:
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R R McKenney; F F Elder; J Garcia; H Northrup |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 66 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1996 Dec |
Date Detail:
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Created Date: 1997-03-11 Completed Date: 1997-03-11 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: 449-52 Citation Subset: IM |
Affiliation:
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Graduate School of Biomedical Sciences, University of Texas, Health Science Center, Houston 77030, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Child, Preschool De Lange Syndrome / genetics*, pathology Failure to Thrive Fatal Outcome Female Genes, Dominant* Humans Infant, Newborn Karyotyping Male Phenotype |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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