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Figure 2 | Molecular Cytogenetics

Figure 2

From: Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11

Figure 2

Clinical features of patient 2(A-E). Lateral (A, C) and frontal (B) view of the patient. The patient has facial asymmetry, sparse eyebrow, a large nasal tip and a long midface with a large mouth and crowding teeth. (D) Hands and (E) feet of the patient. Arrow indicates the surgically removed preaxial polydactyly. (F) Human 660w-Quad SNP-array analysis of the 10q25.2 deletion including SHOC2 in the Patient 2. SNP-array shows a 0.18 Mb deletion in 10q25.2 (chr10: 112611576-112795021/Hg19). Log R ratio and B allele frequency are showed in the upper panel; deleted genes are showed in the lower panel.

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Molecular Cytogenetics

ISSN: 1755-8166