A Clinical and Molecular Description of a Rare Case of Chromosomal Abnormality (Partial Trisomy 14q11.2-q21.1 and Partial Monosomy 21q11.2-q21.3)

The article presents a detailed clinical and molecular and cytogenetic analysis of the unique case of a rare chromosomal abnormality (duplication of 14q11.2-q21.1 and deletion of 21q11.2-q21.3). This chromosomal abnormality is a result of segregation (2:2) of a balanced chromosomal translocation in...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Grigory S. Vasilyev, Tatiana I. Meshcheryakova, Elena N. Lukash, Svetlana S. Zhylina, Ilya V. Kanivets, Alexander N. Petrin
Formato: Artigo
Idioma:Inglês
Publicado em: "Paediatrician" Publishers LLC 2016-08-01
Colecção:Voprosy Sovremennoj Pediatrii
Assuntos:
congenital malformations
developmental delay
chromosomal abnormalities
chromosomal microarray analysis
Acesso em linha:https://vsp.spr-journal.ru/jour/article/view/1643
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados