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Somatic and intellectual development in a patient with 47,XX,psu dic(X)(p11.2) chromosome constitution.

Abstract
An unusual form of X chromosome aneuploidy, 47,XX,psu dic(X)(p11.2), was found during an evaluation for short stature of a prepubertal girl. Unlike 45,X, 47,XXX, 48,XXXX, and 49,XXXXX females, this patient is phenotypically normal except for her short stature, which appears to be unrelated to her chromosome abnormality. X chromosome inactivation studies disclosed inactivation (late replication) of one normal X and the abnormal X chromosome in all cells examined from this patient. Therefore, she is disomic for early-replicating distal Xp loci, found in inactivated X chromosomes, and thought to remain active after lyonization. These data suggest that the presence of three or more copies of the early-replicating, active Xp loci may be responsible for the cognitive deficits and other phenotypic abnormalities seen in and other phenotypic abnormalities seen in polysomy X females.
AuthorsI Ocrant, C D Bangs, K M Johnston, D M Wilson, R L Hintz, R G Rosenfeld, T A Donlon
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 32 Issue 4 Pg. 536-9 (Apr 1989) ISSN: 0148-7299 [Print] UNITED STATES
PMID2773999 (Publication Type: Journal Article)
Topics
  • Aneuploidy
  • Body Height
  • Child
  • Chromosome Banding
  • Dosage Compensation, Genetic
  • Female
  • Growth Disorders (genetics, psychology)
  • Humans
  • Intelligence
  • Multigene Family
  • Phenotype
  • Prenatal Diagnosis
  • X Chromosome

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