Prenatal diagnosis of Langer-Giedion Syndrome confirmed by bac s-on-beads technique

Abstract

Langer-Giedion Syndrome (LGS), with characteristic phenotypic features including craniofacial dysmorphic signs, postnatal growth retardation and skeletal abnormalities, mental impairment, urogenital malformations and heart defects, is caused by partial deletions of the long arm of chromosome 8. We present a case of a female fetus with LGS. The diagnosis was molecularly proven with the BACs on Beads™ method at 32 weeks of gestation. To the best of our knowledge, prenatal recognition of that genetic defect had previously been made in only one case. Also, it has never been described before.