Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature.

[wolf-hirschhorn syndrome]

Wolf-Hirschhorn syndrome (WHS ) is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4 . The great variability in the extent of the 4 p deletion and the possible contribution of additional genetic rearrangements lead to a wide spectrum of clinical manifestations . The majority of the reports of prenatally diagnosed WHS cases are associated with large 4 p deletions identified by conventional chromosome analysis ; however , the widespread clinical use of novel molecular techniques such as array comparative genomic hybridization (a-CGH ) has increased the detection rate of submicroscopic chromosomal aberrations associated with WHS phenotype . We provide a report of two fetuses with WHS presenting with intrauterine growth restriction as an isolated finding or combined with oligohydramnios and abnormal Doppler waveform in umbilical artery and uterine arteries . Standard karyotyping demonstrated a deletion on chromosome 4 in both cases [del (4 )(p 15 .33 ) and del (4 )(p 15 .31 ), respectively ] and further application of a-CGH confirmed the diagnosis and offered a precise characterization of the genetic defect . A detailed review of the currently available literature on the prenatal diagnostic approach of WHS in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided .