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Identification by molecular diagnosis of mosaic Turner's syndrome in an obligate carrier female for fragile X syndrome.

A case of mosaic Turner's syndrome with a 45,X/46,XX/47,XXX karyotype, who was also a fragile X obligate carrier as the mother of an affected boy, was identified by molecular diagnosis. Complete haplotyping and direct DNA analysis showed that the X chromosome in all metaphases was the normal X....

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Bibliografiske detaljer
Main Authors: Tejada, M I, Mornet, E, Tizzano, E, Molina, M, Baiget, M, Boue, A
Format: Artigo
Sprog:Inglês
Udgivet: 1994
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049607/
https://ncbi.nlm.nih.gov/pubmed/8151646
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