Phenotypic and cytogenetic features of an Iranian child with tetrasomy 18p syndrome: A case report

Figure 1 Phenotypic and cytogenetic features of the Iranian girl with tetrasomy 18p syndrome. A: Valgus deformity (with a valgus angle equal to or greater than 10°); B: Pes planus foot deformity with the loss of the longitudinal arch of the foot where it contacts the ground; C: The evidence of strabismus can still be seen on her face at early childhood, a condition she developed from birth and was treated by surgery at 9-month’s age; D: Mild hirsutism in the face of the girl; E: Clenched hand deformity, with evidence of malformation of the hand and malpositioning of the fingers; F: G-banding chromosome analysis showing the abnormal female karyotype with a small marker chromosome (47,XX, +mar); G: Oligo-Array CGH results, showing a gain of 13.9 Mb pathogenic region on 18p11.32p11.21 from nucleotide 148963 to 14081887, which contains 56 OMIM genes.