Rare Prenatal Case: Greig Cephalopolydactyly Syndrome

Prenatal GCPS Case

Abstract

The Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by macrocephaly, prominent forehead, hypertelorism, preaxial and/or postaxial polydactyly, and cutaneous syndactyly. Mutations that causes haploinsufficiency in the zinc finger protein family member 3 (GLI3) gene which is located on the short (p) arm of chromosome 7 (Chr.7-p14 region) have been associated with this syndrome. Here a prenatal GCPS case with haploinsufficiency of GLI3 gene is presenting.  A 32-year-old woman, in her 21^st week of her first pregnancy, was referred to our center for cytogenetic analysis of amniotic fluid due to the detection of polyhydramnios, polydactyly, aortic stenosis, and the absence of vesica biliaris visualization on fetal ultrasound. Chromosome analysis was ended with an interstitial short arm (p12-p15.1) deletion of chromosome 7 consisting of GLI3 gene region (7p14). The presence of short arm terminal region of relevant chromosome was confirmed via fluorescence in situ hybridization analysis. Array comparative genomic hybridization technique was verified the breakpoint regions in detail and revealed a 17.4 Mb deletion covering GLI3 gene. Up to date reported prenatal cases with GCPS syndrome are very rare. Here we present a case diagnosed with GCPS syndrome in the prenatal period, due to a de novo unbalanced chromosomal rearrangement.