A Case of Supernumerary Derivative (22) Syndrome Resulting from a Paternal Balanced Translocation.
- Author:
Youn Soo JUN
1
;
Cheol Hwan SO
;
Seung Taek YU
;
Do Sim PARK
;
Eun Hae CHO
;
Yeon Kyun OH
Author Information
1. Department of Pediatrics, Wonkwang University School of Medicine, Iksan, Korea. oyk5412@wonkwang.ac.kr
- Publication Type:Case Report
- Keywords:
Trisomy 22;
Translocation 11;
22
- MeSH:
Chromosomes, Human, Pair 11;
Chromosomes, Human, Pair 22;
Congenital Abnormalities;
Ear;
Failure to Thrive;
Heart;
Humans;
Intellectual Disability;
Kidney;
Male;
Microcephaly;
Palate;
Parents;
Trisomy
- From:Journal of the Korean Society of Neonatology
2010;17(1):127-131
- CountryRepublic 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.
