Journal of the Korean Society of Neonatology  2010;17(1):127-131

A Case of Supernumerary Derivative (22) Syndrome Resulting from a Paternal Balanced Translocation.

Youn Soo JUN 1 ; Cheol Hwan SO ; Seung Taek YU ; Do Sim PARK ; Eun Hae CHO ; Yeon Kyun OH

Affiliations

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Keywords

Trisomy 22; Translocation 11; 22

Country

Republic of Korea

Language

Korean

Abstract

Supernumerary derivative (22) syndrome is a rare genomic syndrome. It is characterized by severe mental retardation, microcephaly, failure to thrive, preauricular tag or sinus, ear abnormalities, cleft and/or high-arched palate, micrognathia, kidney abnormalities, congenital heart defects, and genital abnormalities in males. In 99% of the cases, one of the parents is a balanced carrier of a translocation between chromosome 11 and chromosome 22. To date, there have been about 100 case reports of supernumerary derivative (22) syndrome. In most of the cases, supernumerary derivative (22) syndrome was the result of 3:1 meiotic segregation in the maternal 11;22 translocation carrier. We now report a case of 47,XX, + der(22)t(11;22)(q23;q11.2) resulting from 3:1 meiotic segregation of the paternal translocation carrier.