title: Prenatal diagnosis of a 12q22q23.2 interstitial deletion by array CGH in a malformed fetus.
abstract: 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.
authors.affiliation: Service de Cytogénétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. valerie.kremer@chru-strasbourg.fr
authors.forename: Valérie
authors.initials: V
authors.lastname: Kremer
authors.forename: Françoise
authors.initials: F
authors.lastname: Girard
authors.forename: Bernard
authors.initials: B
authors.lastname: Gasser
authors.forename: Luc
authors.initials: L
authors.lastname: Marcellin
authors.forename: Dominique
authors.initials: D
authors.lastname: Christmann
authors.forename: Israël
authors.initials: I
authors.lastname: Nisand
authors.forename: Evelyne
authors.initials: E
authors.lastname: Schmitt
authors.forename: Sylvie
authors.initials: S
authors.lastname: Florent
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Flori
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D001483:Base Sequence; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D005333:Fetus; D005817:Genetic Counseling; D057895:Haploinsufficiency; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007334:Insulin-Like Growth Factor I / Q000172:deficiency / Q000235:genetics; D007621:Karyotyping; D008969:Molecular Sequence Data; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal
chemical_list: D007334:Insulin-Like Growth Factor I