Abstract
BackgroundInterstitial deletions of chromosome band 10q11-q22 was a genomic disorder distinguished by developmental delay, congenital cleft palate and muscular hypotonia. The phenotypes involved were heterogeneous, hinge on the variable breakpoints and size.Case presentationHere, we presented a patient with soft palate cleft, growth and development delay. The patient was a 2 years and 5 months girl who was not able to walk unless using a children’s crutches to support herself. Whole-exome sequencing (WES) and whole-genome mate-pair sequencing (WGMS) were both performed by next generation sequencing (NGS). A 20.76 Mb deletion at 10q11.23q22.1 (seq[GRCh37/hg19]del(10)(50,319,387-71,083,899) × 1) was revealed by the WGMS, which was verified as de novo by quantitative polymerase chain reaction (QPCR).ConclusionChildren with 10q11-q22 deletions greater than 20 MB have never been reported before, and we are the first to report and provide a detailed clinical phenotype, which brings further knowledge of 10q11-q22 deletions.
Highlights
Interstitial deletions of chromosome band 10q11-q22 was a genomic disorder distinguished by developmental delay, congenital cleft palate and muscular hypotonia
Patients with 10q11-q22 deletions suffered from language delay, low weight, short stature, hypotonia, bilateral undescended testes, developmental delay, hypoplastic labia minora, strabismus, systolic murmur, and craniofacial dysmorphisms such as anteverted nares, broad-flat nasal bridge, hypertelorism, low-set ears, and telecanthus
We described the phenotype of the patient in detail and reviewed reports of patients with similar 10q11-q22 interstitial deletions encompassing ANK3, HK1 and PRKG1, and provided more information on the relationship between phenotypic characteristic and affected genes
Summary
Children with 10q11-q22 deletions greater than 20 MB have never been reported before, and we are the first to report and provide a detailed clinical phenotype, which brings further knowledge of 10q11-q22 deletions.
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