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Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11
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Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11
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Journal Article
Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11
2010
Overview
Interstitial deletions of chromosome band 10q22 are rare. We report on the characterization of three overlapping
de novo
10q22 deletions by high-resolution array comparative genomic hybridization in three unrelated patients. Patient 1 had a 7.9 Mb deletion in 10q21.3–q22.2 and suffered from severe feeding problems, facial dysmorphisms and profound mental retardation. Patients 2 and 3 had nearly identical deletions of 3.2 and 3.6 Mb, the proximal breakpoints of which were located at an identical low-copy repeat. Both patients were mentally retarded; patient 3 also suffered from growth retardation and hypotonia. We also report on the results of breakpoint analysis by array painting in a mentally retarded patient with a balanced chromosome translocation 46,XY,t(10;13)(q22;p13)dn. The breakpoint in 10q22 was found to disrupt
C10orf11
, a brain-expressed gene in the common deleted interval of patients 1–3. This finding suggests that haploinsufficiency of
C10orf11
contributes to the cognitive defects in 10q22 deletion patients.
Publisher
Springer International Publishing,Nature Publishing Group
Subject
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Chromosomes, Human, Pair 10 - genetics
/ Chromosomes, Human, Pair 13 - genetics
/ Classical genetics, quantitative genetics, hybrids
/ Comparative Genomic Hybridization
/ Facies
/ Female
/ Fundamental and applied biological sciences. Psychology
/ General aspects. Genetic counseling
/ Genetics of eukaryotes. Biological and molecular evolution
/ Human
/ Humans
/ Infant
/ Internet
/ Male
