title: Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy.
abstract: We report the first prenatal diagnosis of de novo distal 5q duplication after the echographic findings of hygroma colli and complex cardiopathy in a female fetus of 16 weeks' gestation. Cytogenetic studies on amniocytes showed a de novo inverted distal 5q duplication: karyotype: 46,XX, inv dup(5) (pter-->q3.53::q3.53-q3.33::q3.53-->qter). Based on the findings in the literature, a review of the malformative syndrome associated with partial distal 5q trisomy is given.
authors.affiliation: Department of Obstetrics and Gynanecology, University of Leuven, Belgium.
authors.forename: I
authors.initials: I
authors.lastname: Witters
authors.forename: G
authors.initials: G
authors.lastname: Van Buggenhout
authors.forename: P
authors.initials: P
authors.lastname: Moerman
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000328:Adult; D018376:Cardiovascular Abnormalities / Q000175:diagnosis / Q000235:genetics*; D002871:Chromosome Banding; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D005313:Fetal Death; D020440:Gene Duplication; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008208:Lymphatic System / Q000002:abnormalities*; D008210:Lymphocele / Q000175:diagnosis / Q000196:embryology / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis