Identification of Balanced and Unbalanced Complex Chromosomal Rearrangement Involving Chromosomes 1, 11, and 15

Chromosomal abnormalities are the common genetic factors that significantly impact fertility, miscarriage possibility and abnormal offspring with unbalanced karyotype. Complex chromosomal rearrangements (CCRs) refer to structural rearrangements which involve more than two breakpoints and often more than two chromosomes. According to the mode of transmission, they can be either familial or de novo rearrangements. Here we report a complex chromosomal rearrangement leading to intellectual disability, speech delay and multiple dysmorphic features, including cleft lip and inguinal hernia. Proband karyotype shows 46,XY,ins (1::11) (q42 -> qter::q25) compatible to partial trisomy 1 q42 -> qter, while the karyotype of his mother was 45,XX, ins (1::15) (q42;q11.1 -> qter), t (1;11)( q42,q25) compatible to apparently normal female phenotype.