Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement.

The occurrence of mosaic Down's syndrome with two independent Robertsonian translocation cell lines is very rare. Such a patient is reported here, in whom an unbalanced Robertsonian translocation between two chromosomes 21 was detected in the majority of cells. The patient also revealed a minor cell...

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Detalhes bibliográficos

Publicado no:	J Med Genet
Principais autores:	Tharapel, A T, Redheendran, R, Mankinen, C B, Kukolich, M K
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMJ Publishing Group 1984
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1049328/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6239037/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.21.5.391
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