title: Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.
abstract: Among previously reported cases of 14q terminal deletions, only 11 have dealt with pure terminal deletion of 14q (14q3-14qter) and the break points were mapped by fluorescent in situ hybridisation (FISH) or genotyping in only four of them. Thanks to a collaborative study on behalf of the 'Association des Cytogeneticiens de langue Française'(ACLF), we report two patients with terminal deletion of the long arm of chromosome 14, del(14)(q32.2) and del(14)(q32.32), diagnosed by subtelomere screening. In the two cases, a thick nuchal skinfold was detected by early ultrasound with normal prenatal karyotype. Their postnatal phenotype included large forehead, narrow palpebral fissures, epicanthic folds, upturned tip of the nose, narrow mouth and thin upper lip, microretrognathia, prominent earlobes, hypotonia, delayed psychomotor development and hypoplastic corpus callosum. By physical mapping using FISH, the size of the deletions was measured for patients 1 and 2: 6.55+/-1.05 and 4.67+/-0.10 Mb, respectively. The paternal origin of the deleted chromosome 14 was established by genotyping of microsatellites for patient 1 and the phenotype of terminal del(14)(q32) was compared to maternal uniparental disomy 14.
authors.affiliation: Service de Génétique, UFR de médecine, Reims CHU, Hopital Maison-Blanche, 45 rue Cognacq-Jay, Reims, France.
authors.forename: Anouck
authors.initials: A
authors.lastname: Schneider
authors.forename: Brigitte
authors.initials: B
authors.lastname: Benzacken
authors.forename: Agnès
authors.initials: A
authors.lastname: Guichet
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
authors.forename: Dominique
authors.initials: D
authors.lastname: Bonneau
authors.forename: Nathalie
authors.initials: N
authors.lastname: Collot
authors.forename: Florence
authors.initials: F
authors.lastname: Dastot-Le-Moal
authors.forename: Michel
authors.initials: M
authors.lastname: Goossens
authors.forename: Laurence
authors.initials: L
authors.lastname: Taine
authors.forename: Emilie
authors.initials: E
authors.lastname: Landais
authors.forename: Dominique
authors.initials: D
authors.lastname: Gaillard
authors.forename: Martine
authors.initials: M
authors.lastname: Doco-Fenzy
mesh_terms: D001483:Base Sequence; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D003337:Corpus Callosum / Q000473:pathology*; D017931:DNA Primers; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010641:Phenotype; D016615:Telomere
chemical_list: D017931:DNA Primers