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).]


Autoria(s): Pescia G.; Jotterand-Bellomo M.; de Crousaz H.; Payot M.; Martin D.
Data(s)

1979

Resumo

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).

Identificador

http://serval.unil.ch/?id=serval:BIB_3E08BDB39F2D

isbn:0003-3995

pmid:316672

isiid:A1979HW05200009

Idioma(s)

fr

Fonte

Annales de Génétique, vol. 22, no. 3, pp. 158-62

Palavras-Chave #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
Tipo

info:eu-repo/semantics/article

article