Document Detail


Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype.
MedLine Citation:
PMID:  1789286     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
D J Wolff; L J Raffel; M M Ferré; S Schwartz
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  41     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1991 Dec 
Date Detail:
Created Date:  1992-03-26     Completed Date:  1992-03-26     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  319-21     Citation Subset:  IM    
Affiliation:
Department of Obstetrics and Gynecology, University of Maryland School of Medicine, Baltimore 21201.
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MeSH Terms
Descriptor/Qualifier:
Adult
Amniocentesis*
Chromosomes, Human, Pair 18*
DNA / genetics
Female
Follow-Up Studies
Humans
Karyotyping
Multigene Family / genetics*
Phenotype
Chemical
Reg. No./Substance:
9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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