Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up

To our knowledge, 22 cases of chromosome 14 maternal uniparental disomy (UPD(14)mat) have been reported so far. The majority of cases were ascertained because of an abnormal phenotype associated with a Robertsonian translocation involving chromosome 14. We report here on a child with UPD(14)mat dete...

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Detalhes bibliográficos
Main Authors: Sanlaville, D, Aubry, M, Dumez, Y, Nolen, M, Amiel, J, Pinson, M, Lyonnet, S, Munnich, A, Vekemans, M, Morichon-Delvalle..., N
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2000
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734622/
https://ncbi.nlm.nih.gov/pubmed/10882756
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.7.525
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