Carregant...

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region

A 4.3 Mb duplication of chromosome 21 bands q22.13–q22.2 was diagnosed by interphase fluorescent in situ hybridisation (FISH) in a 31 week gestational age baby with cystic hygroma and hydrops; the duplication was later found in the mother and in her 8-year-old daughter. All had the facial gestalt of...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Ronan, Anne, Fagan, Kerry, Christie, Louise, Conroy, Jeffrey, Nowak, Norma J, Turner, Gillian
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2009
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3027932/
https://ncbi.nlm.nih.gov/pubmed/21686961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.05.2009.1914
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!