title: De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl With Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment.
abstract: Interstitial deletions of chromosome band 10q22.1q22.3 are rare. We here report a 2.5-year-old female patient with developmental delay, speech delay, congenital cleft palate, and bilateral hearing impairment. The girl's karyotype was normal. Chromosome microarray analysis (CMA) revealed a 1.77-Mb de novo interstitial deletion in 10q22.2q22.3. The deletion harbors 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11. This is the first patient with a deletion of the smallest size in 10q22.2q22.3 as detected using single nucleotide polymorphism (SNP) arrays. Comparisons with patients with overlapping deletions and in neighboring regions demonstrate the clinical impact of each deletion and in the context of other deletions within the 10q22q23 region. Additionally, KAT6B and C10orf11 could represent disease-associated genes that contribute to developmental delay, speech and language delay, and congenital cleft palate.
authors.forename: Ting-Ying
authors.initials: TY
authors.lastname: Lei
authors.forename: Hong-Tao
authors.initials: HT
authors.lastname: Wang
authors.forename: Fan
authors.initials: F
authors.lastname: Li
authors.forename: Ying-Qiu
authors.initials: YQ
authors.lastname: Cui
authors.forename: Fang
authors.initials: F
authors.lastname: Fu
authors.forename: Ru
authors.initials: R
authors.lastname: Li
authors.forename: Can
authors.initials: C
authors.lastname: Liao
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002972:Cleft Palate / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D034381:Hearing Loss / Q000151:congenital / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D007805:Language Development Disorders / Q000235:genetics; D046228:Microarray Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
keywords: 10q22.2q22.3 deletion; C10orf11; KAT6B; chromosome microarray analysis; cleft palate; developmental delay; speech delay