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Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14.

Uniparental disomy (UPD) for particular chromosomes is increasingly recognized as a cause of abnormal phenotypes in humans. We recently studied a 9-year-old female with a de novo Robertsonian translocation t(13;14), short stature, mild developmental delay, scoliosis, hyperextensible joints, hydrocep...

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Detalhes bibliográficos
Main Authors: Antonarakis, S E, Blouin, J L, Maher, J, Avramopoulos, D, Thomas, G, Talbot, C C
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682257/
https://ncbi.nlm.nih.gov/pubmed/8503447
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