Molecular and cytogenetic studies of X inactivation in a patient with 46,X,del(X)(q22).

doi:10.1016/s1083-3188(97)70055-x

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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 chai...

Topics

Child
Chromosome Deletion
Dosage Compensation, Genetic
Female
Humans
Karyotyping
Phenotype
Polymerase Chain Reaction
Puberty
Turner Syndrome
X Chromosome

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