title: A de novo 17q21.2 duplication in a boy with developmental delay and dysmorphic features.
abstract: We report a boy with severe developmental delay, microcephaly and characteristic facial dysmorphism consisting in round face, hypertelorism, upslanted palpebral fissures, small nose, large mouth, micrognathia, sparse hair and eyelashes. Array-CGH revealed a de novo duplication of 103 kb within 17q21.2 not reported to date. The duplication includes 8 genes: DHX58, KAT2A, HSPB9, RAB5C, KCNH4, HCRT, GHDC and STAT5B. Three genes (KATA2, KCNH4, and STAT5B) may contribute to intellectual deficiency. Further observations will be necessary to confirm the specificity of the facial Gestalt.
authors: Départment of Genetics, Univ Paris Diderot Sorbonne Paris Cité, Robert Debré Hospital, Paris, France. celine.violle@gmail.com
authors: Céline
authors: C
authors: Poirsier-Violle
authors: Azzedine
authors: A
authors: Abourra
authors: Clarisse
authors: C
authors: Baumann
authors: Laurence
authors: L
authors: Perrin
authors: Yline
authors: Y
authors: Capri
authors: Cyril
authors: C
authors: Mignot
authors: Sandrine
authors: S
authors: Passemard
authors: Séverine
authors: S
authors: Drunat
authors: Alain
authors: A
authors: Verloes
mesh_terms: D002648:Child; D058674:Chromosome Duplication; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D056426:Genetic Loci; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome