Daniel Enrique Austin-Ward

Chromosomal Triple Mosaicism in a Male with Turner Syndrome, 8p21.1–pter Deletion, and Yq Deletion: A First Case Report

We present the case of a male patient who was under medical observation as an infant due to cardiac malformations, microcephaly, dysmorphic features, and psychomotor developmental delay. Karyotyping revealed mosaicism for Turner syndrome and a deletion of the short arm of chromosome 8 (8p-). Fourteen years later, the p...