title: Partial trisomy 22q12----qter in prenatal diagnosis.
abstract: Ultrasound examination of a 27-year-old primigravida at 26 weeks' gestation revealed fetal growth retardation, malformation of the ventricular septum, and a neck fold. Chromosome analysis of the amniotic fluid showed an abnormal 46,XY karyotype with an obvious metacentric chromosome 17. Chromosome analysis of the mother revealed a balanced t (17;22) (p13;q12) translocation. The fetus thus has a rare familial duplication 22q12----qter. Eight live-born and severely malformed infants with this duplication have been reported in the literature.
authors.affiliation: Department of Gynaecology and Obstetrics, Medical Academy Carl Gustav Carus, Dresden, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Tolkendorf
authors.forename: G
authors.initials: G
authors.lastname: Mehner
authors.forename: B
authors.initials: B
authors.lastname: Prager
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000175:diagnosis*; D025063:Chromosome Disorders; D002892:Chromosomes, Human, Pair 22; D005260:Female; D005317:Fetal Growth Retardation / Q000209:etiology; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D014178:Translocation, Genetic; D014314:Trisomy