22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization

We report on a patient conceived via in vitro fertilization (IVF) with a 22q11.2 deletion due to an unusual unbalanced translocation involving chromosomes 6 and 22 in a karyotype with 45 chromosomes. Cytogenomic studies showed that the patient has a 3.3-Mb deletion of chromosome 22q and a 0.4-Mb del...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Gollo Dantas, Anelisa, Bortolai, Adriana, Moysés-Oliveira, Mariana, Takeno Herrero, Sylvia, Azoubel Antunes, Adriana, Tavares Costa-Carvalho, Beatriz, Ayres Meloni, Vera, Melaragno, Maria Isabel
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2016
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4772615/
https://ncbi.nlm.nih.gov/pubmed/26997945
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000441243
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados