title: Two siblings with partial trisomy 15 and monosomy 21 associated with central nervous system anomalies.
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.
authors.affiliation: Department of Pediatrics, Akita University School of Medicine, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Ishida
authors.forename: Y
authors.initials: Y
authors.lastname: Sawaishi
authors.forename: A
authors.initials: A
authors.lastname: Goto
authors.forename: Y
authors.initials: Y
authors.lastname: Takahashi
authors.forename: H
authors.initials: H
authors.lastname: Arai
authors.forename: W
authors.initials: W
authors.lastname: Nakajima
authors.forename: M
authors.initials: M
authors.lastname: Onozaki
authors.forename: G
authors.initials: G
authors.lastname: Takada
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D002891:Chromosomes, Human, Pair 21; D005260:Female; D016142:Holoprosencephaly / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009006:Monosomy / Q000235:genetics*; D010375:Pedigree; D014314:Trisomy / Q000235:genetics*