| Duplication 3p21----3pter and cyclopia. | |
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MedLine Citation:
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PMID: 3605204 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on a patient with an interchromosomal duplication of 3p, from 3p21 to 3pter, which apparently arose de novo. The infant had multiple malformations including holoprosencephaly and cyclopia. It is possible that duplication 3p has a generalized effect on the holoprosencephalon or the cleavage of the embryonic forebrain. Fibroblasts from the patient are available from the NIGMS Human Genetic Mutant Cell Repository (GM 7216). |
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Authors:
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D N Kurtzman; D L Van Dyke; C A Rich; L Weiss |
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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: 27 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1987 May |
Date Detail:
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Created Date: 1987-07-24 Completed Date: 1987-07-24 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: 33-7 Citation Subset: IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Brain / abnormalities* Chromosome Aberrations* Chromosomes, Human, Pair 3* Female Humans Infant, Newborn Orbit / abnormalities* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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