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

Wolf-Hirschhorn Syndrome (WHS) is caused by distal deletion of the short ar m of chromosome 4 and is characterized by growth deficiency, mental retarda tion, a distinctive, 'greek-helmet' facial appearance, microcephaly, ear lo be anomalies, and sacral dimples. We report a family with a balanced chromo somal translocation 4;18(p15.32;p11.21) in the father and an unbalanced tra nslocation resulting in partial monosomy 4 and partial trisomy 18 in one li ving boy and a prenatally diagnosed male fetus. Both showed abnormalities c onsistent with WHS and had in addition aplasia of one umbilical artery. Kar yotyping of another stillborn fetus revealed a supernumerary derivative chr omosome der(18)t(4;18)(p15.32;p11.21) of paternal origin and two normal chr omosomes 4. The umbilical cord had three normal vessels. A third stillborn fetus with the same balanced translocation as the father had a single umbil ical artery and hygroma colli. Copyright (C) 2000 John Wiley & Sons, Ltd.