Prenatal diagnosis of jumping translocation involving chromosome 22 with ultrasonographic findings

We report on the prenatal diagnosis and ultrasonographic findings of a second-trimester fetus with jumping translocation involving chromosome 22. A 28-year-old gravida 2, partus 1, Turkish woman was referred for genetic counselling and ultrasonographic examination at 18 weeks' gestation because of a high risk of trisomy 21 in triple test. Prenatal ultrasonography showed tetralogy of Fallot with a diverticular dilatation of the pulmonary artery, flattened brow, complete absence of the right upper limb, hypospadias, oligodactyly (three digits) in left hand and in both feet, and hyperechogenic abdominal foci. Amniocentesis revealed a karyotype of 46,XY[4]/46,XY,-8,+der(8),t(8;22)(q24.3;q11.21)[2]/45, XY,-22,-8,+der(8)t(8;22)(q24.3;q11.21)[22]/45,XY,-22,-5,+der(5)t(5;22)(q35.3;q11.21)[44]. A C-banding and FISH study with a specific centromeric probe (D 14Z1/D22Z1) for chromosome 22 was made. In our case, partial monosomy for the regions 22q11.21 ->.22pter, 8q24.3 -> 8qter and 5q35.3 -> 5qter may partially explain the fetal malformations. Copyright (c) 2005 John Wiley & Sons, Ltd.