A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation.

A new case of trisomy 19q13.2-->qter is described in a male child which was caused by a maternal balanced translocation (13;19)(p13;q13.2). The major clinical features detected in the patient included the following: facial dysmorphism, bilateral coloboma, narrow and hypoplastic nails, cardiac mal...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:J Med Genet
Main Authors: Valerio, D, Lavorgna, F, Scalona, M, Conte, A
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 1993
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016504/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8411060/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.8.697
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker