Trisomy 22 syndrome in a 26‐year‐old female—A follow‐up examination

摘要

A 26-year-old female with a complete trisomy 22 syndrome clinically is described. She is the oldest reported case with a trisomy 22 syndrome. Using QM- and R-banding a 47, XX+del(22)(q13) karyotype was established. It is concluded that a region of 22q, proximal to q13, is responsible for the clinical features of the trisomy 22 syndrome.