Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literature.


Autoria(s): Perrin Y.; Addor M.C.; Sekarski N.; Gaide A.C.; Schorderet D.F.
Data(s)

2002

Resumo

A newborn female with partial trisomy for the distal part of the long arm of the chromosome 14 (14q24 --> qter) resulting from a paternal balanced translocation (3;14) is described. We compare her phenotype with eight other individuals with trisomy 14q24 --> qter.

Identificador

http://serval.unil.ch/?id=serval:BIB_E1FDAFD9B1A8

isbn:0003-3995

pmid:12668162

doi:10.1016/S0003-3995(02)01135-8

isiid:000181918900002

Idioma(s)

en

Fonte

Annales de Génétique, vol. 45, no. 4, pp. 173-175

Palavras-Chave #Aorta; Chromosomes, Human, Pair 14; Female; Humans; Infant, Newborn; Karyotyping; Lung; Syndrome; Trisomy
Tipo

info:eu-repo/semantics/article

article