TY - JOUR
T1 - Somatic and intellectual development in a patient with 47,XX,psu dic(X)(p11.2) chromosome constitution
AU - Ocrant, I.
AU - Bangs, C. D.
AU - Johnston, K. M.
AU - Wilson, D. M.
AU - Hintz, R. L.
AU - Rosenfeld, R. G.
AU - Donlon, T. A.
PY - 1989
Y1 - 1989
N2 - 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.
AB - 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.
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U2 - 10.1002/ajmg.1320320422
DO - 10.1002/ajmg.1320320422
M3 - Article
C2 - 2773999
AN - SCOPUS:0024346304
SN - 0148-7299
VL - 32
SP - 536
EP - 539
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 4
ER -