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

AKIRA ISHIDA; YUKIO SAWAISHI; ATSUKO GOTO; YASUSHI TAKAHASHI; HIROKAZU ARAI; WAKO NAKAJIMA; MICHIHIKO ONOZAKI; GORO TAKADA

doi:10.1620/tjem.171.277

AKIRA ISHIDA, YUKIO SAWAISHI, ATSUKO GOTO, YASUSHI TAKAHASHI, HIROKAZU ARAI, WAKO NAKAJIMA, MICHIHIKO ONOZAKI, GORO TAKADA

Author information

Keywords: congenital hydrocephalus, holoprosencephaly, monosomy 21, trisomy 15, siblings

JOURNAL FREE ACCESS

1993 Volume 171 Issue 4 Pages 277-283

DOI https://doi.org/10.1620/tjem.171.277

Details

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.

Corresponding author

Register with J-STAGE for free!