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  • Title: Two siblings with partial trisomy 15 and monosomy 21 associated with central nervous system anomalies.
    Author: Ishida A, Sawaishi Y, Goto A, Takahashi Y, Arai H, Nakajima W, Onozaki M, Takada G.
    Journal: Tohoku J Exp Med; 1993 Dec; 171(4):277-83. PubMed ID: 8184402.
    Abstract:
    A sister and a brother with 46, XX (46, XY), -21, +der (15) (q22.1; q22.1) 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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