Emanuel Syndrome: A Case Report

Authors

  • Dr. Santoshi Kankante
  • Dr. Ganesh Misal
  • Dr. Sunil Natha Mhaske

Keywords:

Emanuel syndrome, supernumerary derivative (22) syndrome, t(11;22), trisomy 11, trisomy 22

Abstract

Emanuel Syndrome or Supernumerary derivative (22) syndrome is one of the rare genomic syndromes. It is characterised by severe mental retardation, microcephaly, failure to thrive, ear anomalies, pre-auricular tags or sinus, cleft palate or high arch palate, micrognathia, renal anomalies, congenital cardiac defects and genital abnormalities in males . In 99 percent of the cases, one of the parents is a balanced carrier of a translocation between chromosome 11 and chromosome 22. We report the first known case, a male neonate, of supernumerary derivative (22) syndrome.

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References

Shaikh Th, Bugrof Ml, Celle L, Zackai EH, Emanuel BS. Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegragation in multiple unreleated t(11;22) families. Am J Hum Genet 1999; 65: 1595-607.

Fraccaro M, Lindsten J, Ford CE, Iselius L. The 11q; 22q translocation; a European collaborative analysis of 43 cases. Hum Genet 1980;56: 21-51.

Crolla JA, Youings SA, Ennis S, Jacobs PA. Supernumerary marker chromosomes in man: parental origin, mosaicism and maternal age revisited. Eur J Human Genet 2005; 13: 154-60.

Kaplan JC, Aurias A, Julier C, Prieur M. Human chromosome 22. J Med Genet 1987;24; 65-78.

Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H. Der(22) t(11;22) resulting from a parental de novo translocation, adjacent 1 segregation and maternal heterodisomy of chromosome 22. J Med Genet 1996;33: 952-6.

Lindblom A, Sandelin K, Iselius L, et al. Predisposition foe breast cancer in carrier of constitutional translocation 11q:22q. Am J Hum Genet 1994; 54: 871-6.

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Published

2018-09-12

How to Cite

Kankante, D. S., Misal, D. G., & Mhaske, D. S. N. (2018). Emanuel Syndrome: A Case Report. VIMS Health Science Journal, 5(3), 131–132. Retrieved from https://vimshsj.edu.in/index.php/main/article/view/104

Issue

Section

Case Report

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