Document Detail


X/autosome translocation in three generations ascertained through an infant with trisomy 16p due to failure of spreading of X-inactivation.
MedLine Citation:
PMID:  8669435     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on a reciprocal translocation t(X;16)(q28;p12) detected in a newborn girl with clinical manifestations of partial trisomy 16p. A balanced translocation was found in the mother and in the maternal grandmother. Replication studies on lymphocytes and fibroblasts showed nonrandom X-inactivation in both the patient and her mother. In the mother, the derivative X (der(X)) was active, whereas the normal X was late replicating. In contrast, in the patient the der(X) was late replicating, and there was no spreading of X-inactivation onto the autosomal segment, thus giving an explanation for the full clinical picture of partial trisomy 16p.
Authors:
W Preis; G Barbi; S Liptay; I Kennerknecht; S Schwemmle; F Pohlandt
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  61     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1996 Jan 
Date Detail:
Created Date:  1996-08-05     Completed Date:  1996-08-05     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  117-21     Citation Subset:  IM    
Affiliation:
Universitätskinderklinik, Ulm, Germany.
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MeSH Terms
Descriptor/Qualifier:
Adult
Chromosomes, Human, Pair 16*
Dosage Compensation, Genetic
Female
Humans
Infant, Newborn
Male
Metaphase
Phenotype
Translocation, Genetic*
Trisomy*

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


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