Fluorescent in situ hybridisation detection of a balanced t(9;17) translocation in the father of a child with lissencephaly and additional abnormalities

Abstract

Complete agyria was found at neuroradiologic examination in a newborn with severe neurologic deficit, spasticity, and seizures. He also revealed multiple minor anomalies, inguinal hernias, cryptorchidism, and clubfeet, and was tentatively diagnosed with Miller-Dieker syndrome. Cytogenetic examination disclosed asymmetry of the terminal short arm of chromosome 17 between the 2 homologs. Fluorescent in situ hybridization (FISH) examination revealed a microdeletion of this segment. FISH examination in the parents showed a balanced rcp(9;17) translocation in the father that resulted in duplication-deletion with partial trisomy of a tiny distal segment of 9p in addition to the 17p terminal deletion in the proband.