Abstract

Wolf-Hirschhorn syndrome (WHS) is a malformation associated with a hemizygous deletion of the distal short arm of chromosome 4. Herein we report a fetal autopsy case of WHS. A male fetus was therapeutically aborted at 17(+0) weeks gestational age, due to complex anomaly and intrauterine growth retardation, which were found in prenatal ultrasonography. His birth weight was 65 g. Mild craniofacial dysmorphism, club feet, bilateral renal hypoplasia, edematous neck, and left diaphragmatic hernia of Bochdalek were found on gross examination. On GTG-banding, the fetus revealed 46,XY,add(4p) karyotype and the mother revealed 46,XX,t(4;18)(p16;q21.1), with normal karyotype of the father. Array comparative genomic hybridization performed on the autopsied lung tissue revealed loss of 4p16.2-->4pter and gain of 18q21.1-->18qter, suggesting 46,XY,der(4)t(4;18)(p16.2;q21.1)mat of fetal karyotype. This suggested deletion of 4p, compatible with WHS inherited from the mal-segregation of a maternal translocation t(4;18)(p16.2;21.1). Therefore, our fetus was both genotypically and phenotypically compatible with WHS.

• Keywords: Autopsy;Karyotyping;Comparative genomic hybridization;Wolf-Hirschhorn syndrome;