Emanuel Syndrome: A Case Report
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Keywords

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

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

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

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