Fig. 2From: Fraternal twins with Phelan-McDermid syndrome not involving the SHANK3 gene: case report and literature reviewThird-generation sequencing results focusing on chromosome 22 in the probands’ family; 22q13.3 deletion is present in two probands (boy: a, girl: b) and absent in the parents (mother: c, father: d). The mother has a 0.6 Mb duplication on 22q11.22 (CNV ratio 35%)Back to article page