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Prenatal diagnosis and genetic analysis of double trisomy 48,XXX,+18
Author(s) -
Chen ChihPing,
Chern SchuRern,
Yeh LiFan,
Chen WenLin,
Chen LiFeng,
Wang Wayseen
Publication year - 2000
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/1097-0223(200009)20:9<750::aid-pd900>3.0.co;2-e
Subject(s) - polyhydramnios , prenatal diagnosis , trisomy , amniocentesis , obstetrics , cisterna magna , aneuploidy , karyotype , fetus , genetic counseling , genetics , medicine , biology , gynecology , chromosome , pregnancy , pathology , cerebrospinal fluid , gene
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 findings 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 fluorescent polymerase chain reaction using polymorphic small tandem repeat markers specific 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 non‐disjunction 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. Copyright © 2000 John Wiley & Sons, Ltd.