Distal trisomy of 10q with distal monosomy of 15q due to a paternal translocation.

ABSTRACT

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.