Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

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Case Report, J Genet Disor Genet Rep Vol: 6 Issue: 3

A New Case of Microdeletion 5q11.2 with Segmental 5q Isodisomy and Review of the Literature

Pecile V1*, Devescovi R2, Cappellani S1, Faletra F1 and Lenzini E3

1Medical Genetics Division, Institute for Maternal and Child Health – IRCCS “Burlo Garofolo”, Trieste, Italy

2Division of Child Neurology and Psychiatry-Institute for Maternal and Child Health – IRCCS “Burlo Garofolo”, Trieste, Italy

3Molecular Cytogenetics Lab, Department of Child and Mother Health, University of Padova, Padova, Italy

*Corresponding Author : Vanna Pecile
Medical Genetics Division, Institute for Maternal and Child Health IRCCS “Burlo Garofolo”, via dell’Istria 65 Trieste, Italy
Tel:
+39403785583
Fax:
+39403785540
E-mail: [email protected]

Received: August 17, 2017 Accepted: September 14, 2017 Published: September 21, 2017

Citation: Pecile V, Devescovi R, Cappellani S, Faletra F, Lenzini E (2017) A New Case of Microdeletion 5q11.2 with Segmental 5q Isodisomy and Review of the Literature. J Genet Disor Genet Rep 6:3. doi: 10.4172/2327-5790.1000160

Abstract

Deletions of the proximal regions of long arm of chromosome 5 are rare, till date only 10 case reports describing patients with del 5q11.2 are available. Segmental UPD are estimated about 0.6% in the random/general population. Recently Snjiders Blok et al. [1] describe a new microdeletion 5q11.2 syndrome. We report a new case of microdeletion 5q11.1-q11.2 with associated segmental isodisomy 5q11.2-qter, patient presents psychomotor retardation, autism spectrum disorder, patent foramen ovale and speech delay and this case is compared with others reported cases from the literature to contribute for the better understanding of 5q11.2 microdeletion syndrome.

Keywords: Microdeletion 5q11.1-q11.2; Segmental UPD; Autism spectrum disorder; SNP-array

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