An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations.

A baby girl with some of the stigmata of Down's syndrome was found to be a mosaic with three different cell lines: 45,XX,-13,-21,+t(13q21q)/(46,XX/46,XX, -21,+t(21q21q). The chromosome rearrangements detected in this patient appear to have arisen de novo. In the normal cell line the terminal en...

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Bibliografiske detaljer
Udgivet i:J Med Genet
Main Authors: Clarke, M J, Thomson, D A, Griffiths, M J, Bissenden, J G, Aukett, A, Watt, J L
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 1989
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1015584/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2523486/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.26.3.198
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