title: Molecular and cytogenetic studies of X inactivation in a patient with 46,X,del(X)(q22).
abstract: 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 assay has the additional advantage of identifying the paternal origin of the deleted X chromosome.
authors.affiliation: Department of Pediatrics, Children's Hospital of Pittsburgh, Pennsylvania 15213, USA.
authors.forename: S F
authors.initials: SF
authors.lastname: Witchel
authors.forename: S L
authors.initials: SL
authors.lastname: Wenger
authors.forename: E P
authors.initials: EP
authors.lastname: Hoffman
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011627:Puberty / Q000502:physiology*; D014424:Turner Syndrome / Q000503:physiopathology; D014960:X Chromosome