Loading...

Trisomy and tetrasomy 15q11-q13 diagnosed by molecular cytogenetic analysis in two patients with mental retardation

In this study, we report two patients with the supernumerary marker chromosome (15)s. The first case is an 8.5-year-old girl with an inv dup (15) syndrome, mental retardation and dysmorphic features. The second case is a 13-year-old boy with a ring chromosome 15, who was referred to the Laboratory o...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:J Pediatr Genet
Main Authors: Bouhjar, Inesse Ben Abdallah, Gmidène, Abir, Soyah, Najla, Hanene, Hannachi, Mougou, Soumaya, Elghezal, Hatem, Saad, Ali
Format: Artigo
Sprog:Inglês
Udgivet: Georg Thieme Verlag KG 2012
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5020922/
https://ncbi.nlm.nih.gov/pubmed/27625804
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-2012-012
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!