Document Detail


Child with Sotos phenotype and a 5:15 translocation.
MedLine Citation:
PMID:  8042674     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on a 4-year-old girl with Sotos phenotype and a de novo balanced translocation between the long arms of chromosome 5 and chromosome 15 [46,XX,t(5,15)(q35;q22)]. We suggest a relationship between genetic material at 5q35 or 15q22 and the expression of an autosomal dominant gene.
Authors:
C Maroun; S Schmerler; R G Hutcheon
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  50     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1994 Apr 
Date Detail:
Created Date:  1994-08-24     Completed Date:  1994-08-24     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  291-3     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, St. Joseph's Hospital and Medical Center, Paterson, NJ 07503.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Chromosomes, Human, Pair 15 / ultrastructure*
Chromosomes, Human, Pair 5 / ultrastructure*
Face / abnormalities*
Female
Fingers / abnormalities
Genes, Dominant*
Gigantism / genetics*
Head / abnormalities*
Humans
Infant, Newborn
Palate / abnormalities
Phenotype
Psychomotor Disorders / genetics
Syndrome
Translocation, Genetic*

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


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