Document Detail


Inherited partial trisomy 8q (22 leads to qter).
MedLine Citation:
PMID:  645677     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report clinical observations and cytogenetic studies of an inherited form of partial trisomy 8q. Although complete trisomy 8 has in recent years proven to be a clinically recognizable syndrome, partial trisomy 8q has been documented in only six individuals. Of these, five were familial and also partially trisomic for chromosome 22. There has been only one prior report of partial trisomy 8q without partial trisomy 22. Review of these cases provides support for the recent suggestion that the phenotype of trisomy 8 may be caused principally by trisomy of the distal segment of 8q.
Authors:
P L Townes; M R White
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of diseases of children (1960)     Volume:  132     ISSN:  0002-922X     ISO Abbreviation:  Am. J. Dis. Child.     Publication Date:  1978 May 
Date Detail:
Created Date:  1978-06-28     Completed Date:  1978-06-28     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0370471     Medline TA:  Am J Dis Child     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  498-501     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple*
Abortion, Induced
Adult
Chromosomes, Human, 6-12 and X*
Female
Heart Septal Defects, Ventricular / genetics
Humans
Infant, Newborn
Karyotyping
Male
Mandibulofacial Dysostosis / genetics*
Phenotype
Pregnancy
Trisomy*

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


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