Document Detail


Duplication of distal 22q.
MedLine Citation:
PMID:  2729354     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on three patients with duplication of distal 22q. One patient is a de novo carrier of the translocation t(21;22) (p13;q11), the other two are offspring of a translocation carrier t(10;22) (q26;q12). The clinical manifestations of these patients demonstrate the variability of the dup(22q) syndrome.
Authors:
D Abeliovich; E Maor; N Bashan; R Carmi
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  32     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1989 Mar 
Date Detail:
Created Date:  1989-06-30     Completed Date:  1989-06-30     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:  346-9     Citation Subset:  IM    
Affiliation:
Cytogenetic Unit, Soroka University Hospital, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*,  pathology
Child
Chromosome Aberrations* / genetics,  pathology
Chromosome Banding
Chromosome Disorders*
Chromosomes, Human, Pair 10
Chromosomes, Human, Pair 21
Chromosomes, Human, Pair 22*
Female
Humans
Infant, Newborn
Karyotyping
Male
Multigene Family*
Pedigree
Phenotype
Translocation, Genetic
Comments/Corrections
Comment In:
Am J Med Genet. 1989 Dec;34(4):616   [PMID:  2636888 ]

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


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