Prenatal diagnosis of a 12q22q23.2 interstitial deletion by array CGH in a malformed fetus

We report the prenatal diagnosis of a 12q22q23.2 de novo interstitial deletion performed by array based comparative genomic hybridization (array CGH) in a fetus with cystic hygroma colli, intrauterine growth retardation, microcephaly and micrognathism.Haploinsufficiency for insuline-like growth factor 1 gene (IGF1), which is mapped in the deleted region, is suggested because of its implication in prenatal and postnatal growth and in neuronal maturation.This case demonstrates the contribution of array CGH in prenatal diagnosis for detecting small unbalanced chromosomal abnormalities in malformed fetuses and, subsequently, for genetic counselling.

► Fetus with cystic hygroma colli, IUGR, microcephaly and cerebral maturation delay. ► 12q22q23.2 de novo interstitial deletion of 7.213 Mb detected with an array CGH. ► IUGR and cerebral maturation failure could be explained by IGF1 haploinsufficiency.