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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 by the same method and confirm...

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Detalhes bibliográficos
Main Authors: Ronan, Anne, Fagan, Kerry, Christie, Louise, Conroy, Jeffrey, Nowak, Norma J, Turner, Gillian
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598003/
https://ncbi.nlm.nih.gov/pubmed/17237124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.047373
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