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

I. Ocrant, C. D. Bangs, K. M. Johnston, D. M. Wilson, R. L. Hintz, R. G. Rosenfeld, T. A. Donlon

Research output: Contribution to journalArticle

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Abstract

An unusual form of X chromosome aneuploidy, 47,XX,psu dic(X)(p11.2), was found during an evaluation for her short stature of a prepubertal girl. Unlike 45,X, 47,XXX, 48,XXXX, and 49,XXXXX females, this patient is phenotypically normal except for 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 polysomy X females.

Original languageEnglish (US)
Pages (from-to)536-539
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume32
Issue number4
DOIs
StatePublished - Jan 1 1989

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Ocrant, I., Bangs, C. D., Johnston, K. M., Wilson, D. M., Hintz, R. L., Rosenfeld, R. G., & Donlon, T. A. (1989). Somatic and intellectual development in a patient with 47,XX,psu dic(X)(p11.2) chromosome constitution. American Journal of Medical Genetics, 32(4), 536-539. https://doi.org/10.1002/ajmg.1320320422