title: Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech.
abstract: We present a 12-year-old girl with karyotype 46,XX. A  comparative genomic hybridization array revealed a 3.172-Mb microduplication on  22q11.2. This chromosome 22q11.2 region microduplication has been described in  patients with variable phenotypes; a large majority of them have identical 3-Mb  duplications. The girl presented mild mental motor retardation, facial dysmorphism  consisting of a long narrow face, widely spaced eyes, downslanting palpebral  fissures, broad nasal base, short philtrum, thin upper lip, micro/retrognathia,  low set and retroverted ears, microcephaly, high-arched palate, hypoplastic  teeth, and hypernasal speech. She had delayed psychomotor development and  behavioral problems. Molecular characterization of patients differs greatly  among reports and detailed molecular characterization and documentation are  needed to better understand the effects of these duplications. This description  of the phenotype of a patient with microduplication on 22q11.2 will contribute to  the growing knowledge regarding deletions and duplications of the 22q11.2  region; this is important to conclude whether 22q11.2 duplication is a  microduplication syndrome or not.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Afyon Kocatepe University, Afyonkarahisar, Turkey. yasemin_soysal@yahoo.com
authors.forename: Y
authors.initials: Y
authors.lastname: Soysal
authors.forename: J
authors.initials: J
authors.lastname: Vermeesch
authors.forename: N A
authors.initials: NA
authors.lastname: Davani
authors.forename: N
authors.initials: N
authors.lastname: Şensoy
authors.forename: K
authors.initials: K
authors.lastname: Hekimler
authors.forename: N
authors.initials: N
authors.lastname: İmirzalıoğlu
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D058674:Chromosome Duplication / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D010641:Phenotype; D011596:Psychomotor Disorders / Q000235:genetics; D013060:Speech; D013061:Speech Acoustics; D013577:Syndrome; D014832:Voice Disorders / Q000235:genetics*; D014833:Voice Quality