Two siblings with partial trisomy 15 and monosomy 21 associated with central nervous system anomalies.
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.
Ishida
A
A
Department of Pediatrics, Akita University School of Medicine, Japan.
Sawaishi
Y
Y
Goto
A
A
Takahashi
Y
Y
Arai
H
H
Nakajima
W
W
Onozaki
M
M
Takada
G
G
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*