J Korean Soc Neonatol.  2010 May;17(1):127-131.

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

Affiliations
  • 1Department of Pediatrics, Wonkwang University School of Medicine, Iksan, Korea. oyk5412@wonkwang.ac.kr
  • 2Department of Laboratory Medicine, Wonkwang University School of Medicine, Iksan, Korea.
  • 3Green Cross Reference Lab, Seoul, Korea.

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.

Keyword

Trisomy 22; Translocation 11;22

MeSH Terms

Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 22
Congenital Abnormalities
Ear
Failure to Thrive
Heart
Humans
Intellectual Disability
Kidney
Male
Microcephaly
Palate
Parents
Trisomy
Chromosomes, Human, Pair 22
Trisomy
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