title: Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.
abstract: Interstitial deletions of the long arm of chromosome 3 are rare and detailed genotype-phenotype correlations are not well established. We report on the clinical, cytogenetic and molecular findings of a 5-year-old patient with a de novo interstitial deletion from 3q25.1 to 3q25.32. Clinical features include relative microcephaly, developmental delay and facial dysmorphism with a coarse face, ptosis, synophrys, epicanthic folds, broad nasal bridge, long philtrum, large mouth with full lips, dysplastic and low-set ears. Revealed by conventional banding techniques, the deleted region of 8.9 Mb was confirmed by fluorescent in situ hybridization (FISH) analyses and array comparative genomic hybridization (array-CGH). To our knowledge, this is the smallest interstitial deletion reported in the 3q25 region. The phenotype of our patient is compared with the 10 previously reported cases implicating the 3q25 region.
authors.affiliation: Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi (Gosselies), Belgium. stephanie.moortgat@ipg.be
authors.forename: Stephanie
authors.initials: S
authors.lastname: Moortgat
authors.forename: Christine
authors.initials: C
authors.lastname: Verellen-Dumoulin
authors.forename: Isabelle
authors.initials: I
authors.lastname: Maystadt
authors.forename: Benoit
authors.initials: B
authors.lastname: Parmentier
authors.forename: Bernard
authors.initials: B
authors.lastname: Grisart
authors.forename: Jean-Luc
authors.initials: JL
authors.lastname: Hennecker
authors.forename: Anne
authors.initials: A
authors.lastname: Destree
mesh_terms: D002675:Child, Preschool; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005145:Face / Q000002:abnormalities*; D056726:Genetic Association Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D017384:Sequence Deletion