title: Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties.
abstract: Deletions of the long arm of chromosome 20 are rare. Here, we report on two girls with a very small interstitial deletion of the long arm of chromosome 20 presenting with severe pre- and post-natal growth retardation, intractable feeding difficulties, abnormal subcutaneous adipose tissue, similar facial dysmorphism, psychomotor retardation and hypotonia. Standard cytogenetic studies were normal, but high-resolution chromosomes analysis showed the presence of a chromosome (20)(q13.2-q13.3) interstitial deletion. Karyotypes of both parents were normal. Molecular studies using FISH and microsatellite polymorphic markers showed that the deletion was of paternal origin and was approximatively 4.5 Mb in size. A review of other reported patients with similar deletions of the long arm of chromosome 20 shows that the observed phenotype might be explained in the light of the GNAS imprinted locus in particular by the absence of the Gnasxl paternally imprinted gene and the TFA2PC gene in the deleted genetic interval.
authors.affiliation: Département de Génétique, Hôpital Necker Enfants Malades, Paris, France. gendav@club-internet.fr
authors.forename: David
authors.initials: D
authors.lastname: Geneviève
authors.forename: Damien
authors.initials: D
authors.lastname: Sanlaville
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: Marie-Laure
authors.initials: ML
authors.lastname: Kottler
authors.forename: Marguerite
authors.initials: M
authors.lastname: Jambou
authors.forename: Philippe
authors.initials: P
authors.lastname: Gosset
authors.forename: Dinane
authors.initials: D
authors.lastname: Boustani-Samara
authors.forename: Graziella
authors.initials: G
authors.lastname: Pinto
authors.forename: Catherine
authors.initials: C
authors.lastname: Ozilou
authors.forename: Geneviève
authors.initials: G
authors.lastname: Abeguilé
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Serge
authors.initials: S
authors.lastname: Romana
authors.forename: Odile
authors.initials: O
authors.lastname: Raoul
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Michel
authors.initials: M
authors.lastname: Vekemans
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20; D020732:Cytogenetic Analysis / Q000379:methods; D005145:Face / Q000002:abnormalities*; D005220:Fathers; D005247:Feeding Behavior; D005260:Female; D018392:Genomic Imprinting / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D011247:Pregnancy