title: Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter).
abstract: We report herein on two female siblings exhibiting mild intellectual disability, hypotonia in infancy, postnatal growth retardation, characteristic appearance of the face, fingers, and toes. Their healthy mother had a translocation between 9q34.1 and the 13pter. FISH and array CGH analysis demonstrated that the two children had an additional 8.5 Mb segment of the 9q34.1-qter at 13pter. The clinical features of the present cases were similar to those of previously reported 9q34 duplication cases; however, the present cases did not exhibit other abnormal behaviors, such as autistic features or attention deficit disorders, those are reportedly associated with 9q34 duplications. A 3.0 Mb region (9q34.1-q34.3) within 9q34 duplication in our patients are overlapped with duplication region of previously reported cases and is proposed to be critical for the presentation of several phenotypes associated with 9q34 duplications.
authors.affiliation: Department of Clinical Genetics, Central Hospital, Aichi Human Service Center, Kasugai, Japan. seiji_mizuno@aichi-colony.jp
authors.forename: Seiji
authors.initials: S
authors.lastname: Mizuno
authors.forename: Daisuke
authors.initials: D
authors.lastname: Fukushi
authors.forename: Reiko
authors.initials: R
authors.lastname: Kimura
authors.forename: Kenichiro
authors.initials: K
authors.lastname: Yamada
authors.forename: Yasukazu
authors.initials: Y
authors.lastname: Yamada
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Kumagai
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Wakamatsu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D017880:Limb Deformities, Congenital / Q000235:genetics; D035781:Siblings; D014178:Translocation, Genetic