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Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf–Hirschhorn syndrome (WHS)
Author(s) -
Kohlschmidt Nicolai,
Zielinski Judith,
Brude Elke,
Schäfer Dieter,
Olert Jürgen,
Hallermann Christian,
Coerdt Wiltrud,
Arnemann Joachim
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/(sici)1097-0223(200002)20:2<152::aid-pd738>3.0.co;2-p
Subject(s) - chromosomal translocation , microcephaly , single umbilical artery , fetus , trisomy , holoprosencephaly , monosomy , supernumerary , karyotype , prenatal diagnosis , aneuploidy , umbilical cord , biology , anatomy , genetics , chromosome , pregnancy , gene
Wolf‐Hirschhorn Syndrome (WHS) is caused by distal deletion of the short arm of chromosome 4 and is characterized by growth deficiency, mental retardation, a distinctive, ‘greek‐helmet’ facial appearance, microcephaly, ear lobe anomalies, and sacral dimples. We report a family with a balanced chromosomal translocation 4;18(p15.32;p11.21) in the father and an unbalanced translocation resulting in partial monosomy 4 and partial trisomy 18 in one living boy and a prenatally diagnosed male fetus. Both showed abnormalities consistent with WHS and had in addition aplasia of one umbilical artery. Karyotyping of another stillborn fetus revealed a supernumerary derivative chromosome der(18)t(4;18)(p15.32;p11.21) of paternal origin and two normal chromosomes 4. The umbilical cord had three normal vessels. A third stillborn fetus with the same balanced translocation as the father had a single umbilical artery and hygroma colli. Copyright © 2000 John Wiley & Sons, Ltd.