Prenatal diagnosis of a 0.7-Mb 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities.

OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of 17p13.3 microdeletion encompassing YWHAE and CRK but not PAFAH1B1 in a fetus without ultrasound abnormalities.

CASE REPORT: A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of a family history of spinocerebellar atrophy in the husband. Amniocentesis revealed a karyotype of 46,XX. Simultaneously array comparative genomic hybridization (aCGH) analysis (using 60,000 probes) revealed a 0.7-Mb 17p13.3 microdeletion or arr 17p13.3 (1,264,243-1,965,733) × 1 dn [GRCh37 (hg19)] encompassing YWHAE and CRK but not PAFAH1B1. Prenatal ultrasound findings were unremarkable. There were no structural abnormalities of the brain, heart, kidneys, skull, limbs and other internal organs. The parents elected to terminate the pregnancy, and a 268-g fetus was delivered at 19 weeks of gestation with mild facial dysmorphism. Postnatal high-resolution aCGH analysis of the placenta (using 630,000 probes) showed a 0.79-Mb 17p13.3 microdeletion or arr 17p13.3 (1,173,549-1,970,690) × 1 (hg19) encompassing TUSC5, YWHAE, CRK and HIC1 but not PAFAH1B1. Metaphase fluorescence in situ hybridization analysis using the 17p13.3-specific probe of RP11-818O24 revealed a 17p13.3 deletion.

CONCLUSION: Fetus with 17p13.3 microdeletion without involving PAFAH1B1 may present no brain abnormalities on fetal ultra sound.