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Prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and Wolf–Hirschhorn syndrome (WHS)

✍ Scribed by Nicolai Kohlschmidt; Judith Zielinski; Elke Brude; Dieter Schäfer; Jürgen Olert; Christian Hallermann; Wiltrud Coerdt; Joachim Arnemann

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
86 KB
Volume
20
Category
Article
ISSN
0197-3851

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✦ Synopsis

Wolf-Hirschhorn Syndrome (WHS) is caused by distal deletion of the short arm of chromosome 4 and is characterized by growth de®ciency, 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.

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