Prenatal diagnosis and genetic analysis of double trisomy 48,XXX,+18

✍ Scribed by Chih-Ping Chen; Schu-Rern Chern; Li-Fan Yeh; Wen-Lin Chen; Li-Feng Chen; Wayseen Wang

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 125 KB
• Volume: 20
• Category: Article
• ISSN: 0197-3851
• DOI: 10.1002/1097-0223(200009)20:9<750::aid-pd900>3.0.co;2-e

✦ Synopsis

Prenatal diagnosis of simultaneous occurrence of double trisomy involving chromosomes 18 and X is extremely rare. We report on the prenatal diagnosis, genetic analysis and clinical manifestations of a fetus with both trisomy 18 and trisomy X. A 26-year-old, para 1 woman was referred for genetic counselling at 36 weeks' gestation with the sonographic ®ndings of intrauterine growth retardation (IUGR), polyhydramnios, ventricular septal defect, and an enlarged cisterna magna. Both cordocentesis and amniocentesis revealed a consistent karyotype of 48,XXX,+18. Quantitative ¯uorescent polymerase chain reaction using polymorphic small tandem repeat markers speci®c for chromosomes 18 and X rapidly determined that both aneuploidies arose as a result of non-disjunction in maternal meiosis II. Our case shows that two nondisjunction events can occur not only in the same parent, but also in the same cell division. Our case also shows that double trisomy, 48,XXX,+18, can demonstrate an enlarged cisterna magna, IUGR and polyhydramnios in prenatal ultrasound.