Review of a rare maternally-derived unbalanced translocation involving deletion of chromosome 10q26.3 and duplication of chromosome 15q22.2→15q26.3 in a 32-year-old male patient: A case report

Abstract

Deletion of the most distal segment of chromosome 10q in conjunction with duplication of terminal 15q is a rare chromosomal disorder, appearing to be a unique finding within the present literature. We report a 32-year-old male patient with an unbalanced translocation between chromosomes 10 and 15, resulting in a 344 kb terminal deletion of chromosome 10q26.3 and a 41 Mb duplication of chromosome 15q22.2→15q26.3 as a result of a maternally-derived balanced translocation. Patient features included global developmental delay and severe cognitive impairment, significant kyphoscoliosis, diffuse core, extremity, and facial hypotonia, and finger irregularities including broad thumbs, broad fingertips with persistent fetal finger pads, and right-handed flexion contracture. The unique features of the present case, including the age of the patient, may assist in providing a broader understanding of features associated with unbalanced translocations between telomeric portions of chromosomes 10 and 15 as well as provide insight into adult phenotyping which is not currently addressed in available literature.