Prenatal diagnosis of familial 46,X,del(X)(q27.1) with an Xq27.1-q28 deletion and an Xp22.33 microduplication in an asymptomatic mother carrier

A 36-year-old, gravida 3, para 1, woman underwent amniocentesis at 20 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,X,del(X)(q27.1)[18]/45,X[2]/47,X,del(X) (q27.1),+del(X) (q27.1)[1] ( Fig. 1 ). She was referred for genetic counseling at 22 weeks of gestation. The mother had a karyotype of 46,X,del(X)(q27.1), and the father had a karyotype of 46,XY. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes and maternal blood revealed a 1.172-Mb Xp22.33 microduplication encompassing SHOX and a 15.01-Mb Xq27.1-q28 deletion encompassing MECP2 ( Fig. 2 ). The asymptomatic mother had a normal phenotype. Her body height was 157 cm, and her body weight was 78 Kg. She did not have ovarian failure. She had a 9-year-old son with a karyotype of 46,XY and a 7-year-old daughter with a karyotype of 46,XX. Level II fetal ultrasound was normal. At 34 weeks of gestation, a 2274-g phenotypically normal female baby was delivered. When follow-up at age one year and seven months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 46,X,del(X)(q27.1) in 40/40 cells, and fluorescence in situ hybridization (FISH) analysis on 101 buccal mucosal cells revealed an Xq terminal deletion in all cells.