Comparison of the genes and the genomic intervals deleted by the microdeletions in chromosome 17q22 that are associated with <i>NOG</i>-SSD only (dark gray), ID only (light gray), or both <i>NOG</i>-SSD and ID (black).

<p>Candidate regions for causative genes of ID are shown by the brackets on the top.</p

Mapping and identification of the breakpoints of the 1.6-Mb microdeletion in Family F13.

<p>A) Schematic illustration of the mapping and identification process. The results of array-CGH, quantitative real-time PCR and sequencing across the breakpoints are shown in the top, middle and bottom panels, respectively. B) A 1.2-kb PCR product was amplified from the mutant allele across the breakpoints in the five affected family members F13-2, F13-3, F13-5, F13-6 and F13-7, but not in the unaffected family member F13-4.</p

Pedigree, genotype and phenotype characterization of Family F13.

<p>A) Pedigree and SNP genotypes of Family F13. The proband F13-2 is pointed by the arrow. SNP genotypes of subjects F13-1, F13-2, F13-6 and F13-7 showed a loss of heterozygosity (in dotted box) in the affected individuals. B) Representative audiograms of subject F13-6. The gaps between the air- (AC) and bone-conducted (BC) hearing thresholds indicate a conductive hearing loss. C) Images and digital radiography of the hands of subject F13-5 showing fusion of the proximal interphalangeal joints at the fifth fingers (arrows).</p