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