Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing<i> KPNA2</i> and<i> PSMD12</i> Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

<div>Fetal phenotype at 30 WG, fetal cytogenetic assays, and profile of the overlapping deletions described by array-CGH. (a) Fetal phenotype: face; right profile global view of the feet showing equinovarus feet and extreme flexion of the hallux; right foot with 2-3 toes’ cutaneous syndactyly. (b) Agilent PreCytoNem 105K array-CGH profile of chromosome 17 showing a 2.5 Mb 17q24.1q24.2 deletion. (c) Profile of the overlapping deletions described by array-CGH (patients of Blyth et al. and Stewart et al. were remapped in hg19).</div>

Case Reports in Genetics

fig1

Figure 1

Figure 1: Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing<i> KPNA2</i> and<i> PSMD12</i> Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly 

Figure 1 | Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly 