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Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.

A newborn infant with clinical and pathological findings typical trisomy 13 and 22 syndromes had an extra chromosome which was a derivative chromosome from maternal balanced translocation affecting Nos. 13 and 22; 47,XY,+der(22),t(13:22)(q22:q12)Mat. The presence of extra specific euchromatic region...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Kim, H J, Hsu, L Y, Goldsmith, L C, Strauss, L, Hirschhorn, K
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 1977
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013525/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/853317/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.14.2.114
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