Document Detail


Prenatal diagnosis of a 46,XX,inv(12)pat/47,XX,i(Xq),inv(12)pat.
MedLine Citation:
PMID:  3804337     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A 46,XX,inv(12)pat/47,XX,i(Xq),inv(12)pat was diagnosed prenatally in a 36-year-old woman whose husband was a known carrier of a pericentric inversion of chromosome 12. The diagnosis was confirmed in fetal tissue. Terminal bromodeoxyuridine (BrdU) labelling demonstrated that in the line with 46 chromosomes one X was late replicating, while one X and the i(Xq) were late replicating in 100% of the cells with 47 chromosomes. We present the first case of this type of sex chromosome mosaicism. Genetic counseling presented difficulties since it was not possible to predict the fetal phenotype.
Authors:
M Varela; N Wang; M Cerrillo
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Human genetics     Volume:  75     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1987 Jan 
Date Detail:
Created Date:  1987-03-05     Completed Date:  1987-03-05     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  93-4     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Chromosome Inversion*
Female
Fetal Diseases / diagnosis
Humans
Karyotyping
Mosaicism*
Pregnancy
Prenatal Diagnosis*
Sex Chromosome Aberrations / diagnosis*
X Chromosome*

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


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