| Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype. | |
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MedLine Citation:
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PMID: 1789286 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Direct two-generation transmission of an unbalanced 18p+ chromosome was discovered after amniocentesis. Neither the mother nor the child exhibited apparent physical malformations or mental impairment. Banding analysis suggested a complete 18p duplication. Molecular studies verified the 18p origin of the duplicated material. Only 14 previous cases of duplication 18p have been reported and these exhibited either a normal phenotype or mild and inconsistent abnormalities. The present cases, as well as the review of literature, indicate that duplication 18p is associated with few or inapparent phenotypic abnormalities. |
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Authors:
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D J Wolff; L J Raffel; M M Ferré; S Schwartz |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics Volume: 41 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1991 Dec |
Date Detail:
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Created Date: 1992-03-26 Completed Date: 1992-03-26 Revised Date: 2005-11-16 |
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: 319-21 Citation Subset: IM |
Affiliation:
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Department of Obstetrics and Gynecology, University of Maryland School of Medicine, Baltimore 21201. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Amniocentesis* Chromosomes, Human, Pair 18* DNA / genetics Female Follow-Up Studies Humans Karyotyping Multigene Family / genetics* Phenotype |
| 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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