A case of partial trisomy 22 due to paternal 11;22 translocation, t(11;22)(q25;q13.1).

Lee, Sang Hee; Cho, Hyun Chul; Shin, Su Kyong; Lee, Jae Ik; Choi, Won Jun; Lee, Soon Ae; Lee, Jong Hak; Paik, Won Young

Case Report

Korean Journal of Obstetrics & Gynecology 2002;45(9):1601-1605.
Published online September 1, 2002.

A case of partial trisomy 22 due to paternal 11;22 translocation, t(11;22)(q25;q13.1).

Sang Hee Lee, Hyun Chul Cho, Su Kyong Shin, Jae Ik Lee, Won Jun Choi, Soon Ae Lee, Jong Hak Lee, Won Young Paik

Department of Obstetrics and Gynecology, College of Medicine, Gyeongsang National University, JinJu, Korea.

Abstract

Trisomy 22 is a frequent finding in spontaneous abortion. However, survival to term is tenuous. So far there have been about 85 cases of trisomy 22. Most of all cases, trisomy 22 was result of 3:1 meiotic segregation in the maternal 11;22 translocation carrier. These patients have a supernumerary, abnormal chromosome 22 [der(22)], in their chromosome constitution: 47,XX(or XY),+der(22),t(11q;22q). Affected children have a distinct phenotype with multiple anomalies and severe mental retardation. We now report a viable case of 47,XX,+der(22)t(11;22)(q25;q13.1) resulting from 3:1 segregation in paternal translocation.

Key Words: Trisomy 22, paternal 11, 22 translocation