Terminal 2q deletion and distal 15q duplication: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes.

A 35-year-old, gravida 3, para 2, woman was referred to the hospital at 18 weeks of gestation for amniocentesis because of advanced maternal age and relatives with balanced and unbalanced chromosomal translocations. Her husband and her elder daughter had a balanced translocation of t(2;15)(q37.3;q24.3). Her younger daughter suffered from mental retardation and had an unbalanced translocation of der(2)t(2;15) (q37.3;q24.3)pat. The woman’s karyotype was normal. Prenatal ultrasound during the current pregnancy revealed no structural abnormalities. Genetic amniocentesis was performed at 19 weeks of gestation, and 30 mL of amniotic fluid was aspirated, of which 10 mL was used for array comparative genomic hybridization (aCGH) using uncultured amniocytes and 20 mL was used for conventional cytogenetic analysis using cultured amniocytes. Within 3 days, bacterial artificial chromosome (BAC)-based aCGH demonstrated partial monosomy 2q and partial trisomy 15q [arr cgh 2q37.3q37.3 (RP11-299F2 RP11-875C22)× 1, 15q25.1q26.3 (RP11-10K12 RP11-530H6)×3] (Figure 1). Conventional cytogenetic analysis revealed TERMINAL 2Q DELETION AND DISTAL 15Q DUPLICATION: PRENATAL DIAGNOSIS BY ARRAY COMPARATIVE GENOMIC HYBRIDIZATION USING UNCULTURED AMNIOCYTES