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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Autores principales: Dennis, N R, Collins, A L, Crolla, J A, Cockwell, A E, Fisher, A M, Jacobs, P A
Formato: Artigo
Lenguaje:Inglês
Publicado: 1993
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016421/
https://ncbi.nlm.nih.gov/pubmed/8326492
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