A Genotype First Approach in Currarino Syndrome 

Authors

  • Donatella Milani Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
  • Francesca Andrea Bonarrigo Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
  • Silvana Guerneri Medical Genetics Laboratory, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
  • Marco Baccarin Medical Genetics Laboratory, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
  • Francesca Menni Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy
  • Susanna Esposito Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy

DOI:

https://doi.org/10.12974/2311-8687.2013.01.01.3

Keywords:

Array CGH, 7q36.2q36.3 deletion, 7q36.1q36.2 duplication, sacral agenesis, teratoma.

Abstract

We describe a 3-year-old girl presenting with psychomotor delay and facial dysmorphisms. Array CGH showed a region of duplication and a contiguous deletion on the long arm of chromosome 7. The genetic results allowed us to discover previously unsuspected sacral agenesis and presacral teratoma typical of Currarino syndrome, whose gene maps to the deleted region. So we used a genotype first approach to better discover the phenotypic traits of our patient, highlighting the advantages of an appropriate clinical use of genetic methods. 

References

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Unique International

[homepage on the Internet]. Available from http://www.uniqueinternational.org/html/home.asp Accessed on 21 August 2013.

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Published

2013-04-04

How to Cite

Milani, D., Bonarrigo, F. A., Guerneri, S., Baccarin, M., Menni, F., & Esposito, S. (2013). A Genotype First Approach in Currarino Syndrome . International Journal of Pediatrics and Child Health, 1(1), 11–14. https://doi.org/10.12974/2311-8687.2013.01.01.3

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Articles