Down syndrome: characterisation of a case with partial trisomy of chromosome 21 owing to a paternal balanced translocation (15;21) (q26;q22.1) by FISH.

A patient with a typical Down syndrome (DS) phenotype and a normal karyotype was studied by FISH. Using painting probes, we found that the patient had partial trisomy of chromosome 21 owing to an unbalanced translocation t(15;21) (q26; q22.1) of paternal origin. To correlate genotype with phenotype...

ver descrição completa

Detalhes bibliográficos

Publicado no:	J Med Genet
Principais autores:	Nadal, M, Moreno, S, Pritchard, M, Preciado, M A, Estivill, X, Ramos-Arroyo, M A
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMJ Publishing Group 1997
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1050847/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9032650/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.34.1.50
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!