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SOMATIC AND INTELLECTUAL-DEVELOPMENT IN A PATIENT WITH 47,XX,PSU DIC(X)(P11.2) CHROMOSOME CONSTITUTION AMERICAN JOURNAL OF MEDICAL GENETICS OCRANT, I., Bangs, C. D., Johnston, K. M., Wilson, D. M., Hintz, R. L., Rosenfeld, R. G., Donlon, T. A. 1989; 32 (4): 536-539

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.

View details for PubMedID 2773999