Article
Molecular and cytogenetic studies of X inactivation in a patient with 46,X,del(X)(q22).
Journal of pediatric and adolescent gynecology - 1 May 1997
Witchel S F, Wenger S L, Hoffman E P
Abstract excerpt
We report on a phenotypically normal girl with a deletion of the distal long arm of one X chromosome at Xq22, and spontaneous pubertal development including menarche. This suggests that the distal long arm of the X chromosome is not crucial for ovarian development. Cytogenetic and polymerase chain reaction (PCR) amplification methods both showed preferential inactivation of the deleted X chromosome. The PCR-based...
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