Interstitial deletion of chromosome 13: prognosis and adult phenotype.

A de novo interstitial deletion of chromosome 13 (46,XY,del(13)(pter----q14.3::q22.3----qter] is described in a 22 year old man with severe mental retardation, poor language development, low set ears, hypertelorism, broad nasal bridge, short hands and fingers, and a history of swallowing disorder in...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Med Genet
Prif Awduron: Dean, J C, Simpson, S, Couzin, D A, Stephen, G S
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 1991
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016982/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1920369/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.8.533
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg