Stillborn baby with partial monosomy of the short arm of chromosome 5 and partial trisomy of the short arm of chromosome 20.
A stillborn baby with multiple malformations, including cardiac defects and cerebellar hypoplasia, is described. The abnormal features were ascribed to an unbalanced chromosome translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 20. A parental balanced translocation t(5; 20)(p13.3; p11.23) was identified. The present case is the first case in Japan of monosomy of the short arm of chromosome 5 and trisomy of the short arm of chromosome 20.
Okada
Michiko
M
Chromosome Laboratory, Shiseikai Dai-Ni Hospital, Setagaya-ku, Tokyo, Japan. chrom-lab.ssk2@mbn.nifty.com
Usami
Akemi
A
Okajima
Kaori
K
Yamada
Miwako
M
Yamaguchi
Yuka
Y
Umezaki
Izumi
I
Matsuda
Yoshio
Y
Ohta
Hiroaki
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007564:Japan; D007621:Karyotyping; D050497:Stillbirth; D014178:Translocation, Genetic; D014314:Trisomy