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Down's Syndrome with 47,XX,+21/47,XX,+mar Mosaicism

A four-year-old girl with typical Down's syndrome is described. She has 47,XX,+21 karyotype in skin and lymphocytes and 47,XX,+mar karyotype in some lymphocytes. Autoradiography and fluorescent analyses have failed to identify the +mar chromosome which has the appearance of a `D' chromosom...

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Podrobná bibliografie
Vydáno v:J Med Genet
Hlavní autoři: Weber, Felice M., Sparkes, Robert S., Muller, Helga
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 1973
Témata:
On-line přístup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013012/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4268391/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.10.2.177
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