Three patients with ring (X) chromosomes and a severe phenotype.

Three patients with mosaicism and a cell line containing a small ring (X) chromosome are described. Their phenotype is similar to several previously reported patients with a 45,X/46,X,r(X) karyotype and a phenotype far more severely affected than expected in Turner's syndrome. The clinical pict...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Dennis, N R, Collins, A L, Crolla, J A, Cockwell, A E, Fisher, A M, Jacobs, P A
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 1993
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016421/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8326492/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.6.482
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