The Tohoku Journal of Experimental Medicine
Online ISSN : 1349-3329
Print ISSN : 0040-8727
ISSN-L : 0040-8727
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
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キーワード: congenital hydrocephalus, holoprosencephaly, monosomy 21, trisomy 15, siblings
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1993 年 171 巻 4 号 p. 277-283

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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.
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    The Tohoku Journal of Experimental Medicine (TJEM) was founded in 1920 by professors of Tohoku Imperial University, Medical School. The TJEM has been published continuously, except for the year of 1946 just after the World War II. The TJEM is open to original articles in all branches of medical sciences. The TJEM also covers the fields of disaster-prevention science, including earthquake archeology.


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