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

Jun, Youn-Soo (Department of Pediatrics, Wonkwang University School of Medicine)
So, Cheol-Hwan (Department of Pediatrics, Wonkwang University School of Medicine)
Yu, Seung-Taek (Department of Pediatrics, Wonkwang University School of Medicine)
Park, Do-Sim (Department of Laboratory Medicine, Wonkwang University School of Medicine)
Cho, Eun-Hae (Green Cross Reference Lab)
Oh, Yeon-Kyun (Department of Pediatrics, Wonkwang University School of Medicine)
Publication Information
Neonatal Medicine / v.17, no.1, 2010 , pp. 127-131 More about this Journal
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.
Keywords
Trisomy 22; Translocation 11; 22;
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