Two Siblings with Partial Trisomy 15 and Monosomy 21 Associated with Central Nervous System Anomalies

Abstract

ISHIDA, A., SAWAISHI, Y., GOTO, A., TAKAHASHI, Y., ARAI, H., NAKAJIMA, W., ONOZAKI, M. and TAKADA, G. Two Siblings with Partial Trisomy 15 and Monosomy 21 Associated with Central Nervous System Anomalies. Tohoku J. Exp. Med., 1993, 171 (4), 277-283-A sister and a brother with 46, XX (46, XY), -21, +der (15) (q22.1; g22.1) mat were reported whose mother had a karyotype of 46, XX, t(15; 21)(q22.1; 22.1) and was phenotypically normal. Both sibs were mentally retarded and dysmorphic. Moreover, the sister had a holoprosencephaly with congenital hydrocephalus, and the brother showed congenital hydrocephalus.