Document Detail

Incontinentia pigmenti: Xp breakpoint is not the same in a case of r(X) and in X/autosome translocations.
MedLine Citation:
PMID:  2817774     Owner:  NLM     Status:  MEDLINE    
X-specific DNA probes were used to characterize the r(X) of a 45,X/46,X,r(X) female patient with Incontinentia pigmenti. It was found to be of maternal origin. Breakpoints were shown to be in or distal to p11.22 and between q12.2 and q13.1. When considering all known cases of Incontinentia pigmenti and X rearrangements at least four different break sites on the X have been shown.
A Sefiani; S Heuertz; C Turleau; D Thibaud; J de Grouchy; M C Hors-Cayla
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Annales de génétique     Volume:  32     ISSN:  0003-3995     ISO Abbreviation:  Ann. Genet.     Publication Date:  1989  
Date Detail:
Created Date:  1989-12-01     Completed Date:  1989-12-01     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  0370562     Medline TA:  Ann Genet     Country:  FRANCE    
Other Details:
Languages:  eng     Pagination:  149-51     Citation Subset:  IM    
U.12 INSERM, Hôpital Necker-Enfants-Malades, Paris.
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MeSH Terms
Chromosome Aberrations* / genetics*,  pathology
Chromosome Disorders*
Chromosomes, Human, Pair 9 / ultrastructure*
DNA Probes / diagnostic use
Dosage Compensation, Genetic
Genetic Markers
Incontinentia Pigmenti / genetics*
Linkage (Genetics)
Pigmentation Disorders / genetics*
Ring Chromosomes*
Translocation, Genetic*
X Chromosome / ultrastructure*
Reg. No./Substance:
0/DNA Probes; 0/Genetic Markers

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