Distal trisomy of 10q with distal monosomy of 15q due to a paternal translocation.
Distal trisomy of 10q is a rare chromosomal abnormality. Distal deletions of the terminal long arm of chromosome 15 have rarely been described. We report on a male infant with low birth weight and microcephaly, a flat face with a spacious forehead, low-set ears, blepharophimosis, microphthalmia, a small nose, and a depressed nasal bridge. Microarray comparative genomic hybridization identified that he had the karyotype 46, XY, der (15) t (10;15) (q25.2;q26.2) pat, with chromosomal breakpoints at 10q25.2 and 15q26.2. This male neonatal case had an unbalanced translocation inherited from his father who was a balanced carrier with the karyotype 46, XY, t (10;15) (q25;q26). The neonate had a partial trisomy of the long arm of chromosome 10 with a partial monosomy of distal 15q. The clinical features were in agreement with previous descriptions and allowed us to propose a growth retardation phenotype for this neonate case.
Sun
S C
SC
Department of Clinical Laboratory, Shenzhen Baoan Hospital, Southern Medical University, Shenzhen, Guangdong, China. bayyyz@yahoo.com.cn
Luo
F W
FW
Song
H W
HW
He
J B
JB
Peng
Y S
YS
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005220:Fathers; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted; D007231:Infant, Newborn; D008297:Male; D009006:Monosomy / Q000235:genetics*; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*