Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.
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.
Tzschach
Andreas
A
Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany. tzschach@molgen.mpg.de
Bisgaard
Anne-Marie
AM
Kirchhoff
Maria
M
Graul-Neumann
Luitgard M
LM
Neitzel
Heidemarie
H
Page
Stephanie
S
Ahmed
Alischo
A
Müller
Ines
I
Erdogan
Fikret
F
Ropers
Hans-Hilger
HH
Kalscheuer
Vera M
VM
Ullmann
Reinhard
R
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D015894:Genome, Human / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D020407:Internet; D008297:Male; D011247:Pregnancy; D014178:Translocation, Genetic