Phénotype de la trisomie 9q distale chez un enfant présentant un chromosome surnuméraire remanié [t(X;9)]. [Distal 9q trisomy phenotype in a patient with a supernumerary rearranged chromosome [t(X:9)] (author's transl).]
Details
Serval ID
serval:BIB_3E08BDB39F2D
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Phénotype de la trisomie 9q distale chez un enfant présentant un chromosome surnuméraire remanié [t(X;9)]. [Distal 9q trisomy phenotype in a patient with a supernumerary rearranged chromosome [t(X:9)] (author's transl).]
Journal
Annales de Génétique
ISSN
0003-3995
Publication state
Published
Issued date
1979
Volume
22
Number
3
Pages
158-62
Language
french
Notes
Publication types: Case Reports ; English Abstract ; Journal Article - Publication Status: ppublish
Abstract
A child with clinical features associated a trisomy for the distal part of 9q was shown to have the following abnormal chromosome complement : 47,XY,+t)X;9) (Xpter yields Xq24:9q31 yields 9qter), inv 9(p11q13), var 14 (14pQFQ34).
Keywords
Abnormalities, Multiple, Chromosomes, Human, 13-15, Chromosomes, Human, 6-12 and X, Female, Humans, Infant, Newborn, Inversion, Chromosome, Karyotyping, Male, Phenotype, Translocation, Genetic, Trisomy, X Chromosome
Pubmed
Web of science
Create date
22/05/2009 9:22
Last modification date
20/08/2019 14:34
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