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Fig. 3 | Molecular Cytogenetics

Fig. 3

From: Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis

Fig. 3

a The genomic locations of the 16 small (<1 Mb) pathogenic deletions involving the EHMT1 gene. b. A 22-kb deletion (chr9:140,667,619-140,689,934) was found in 32-year-old female with intellectual disability. c A 40-kb deletion (chr9:140,694,541-140,734,178) was identified in a 5-year-old girl. d A 39-kb deletion (chr9:140,650,471-140,689,373) was discovered in a 1-year-old girl with developmental delay, speech and motor delay, white matter changes on MRI, and hypotonia

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Molecular Cytogenetics

ISSN: 1755-8166