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

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-...

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Bibliographic Details
Published in:The Cleft palate-craniofacial journal 2017-05, Vol.54 (3), p.343-350
Main Authors: Lei, Ting-Ying, Wang, Hong-Tao, Li, Fan, Cui, Ying-Qiu, Fu, Fang, Li, Ru, Liao, Can
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Apgar score
Birth defects
Child, Preschool
Children & youth
Chromosome Deletion
Chromosomes
Cleft Palate - genetics
Dentistry
Deoxyribonucleic acid
Developmental Disabilities - genetics
DNA
Ear diseases
Female
Genes
Genetic testing
Genomes
Hearing loss
Hearing Loss - congenital
Hearing Loss - genetics
Humans
Intellectual disabilities
Karyotyping
Language Development Disorders - genetics
Microarray Analysis
Mutation
Parents & parenting
Patients
Polymorphism, Single Nucleotide - genetics
Speech
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Summary: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.
ISSN:1055-6656
1545-1569
DOI:10.1597/15-171