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

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Case Report, J Genet Disor Genet Rep Vol: 7 Issue: 3

Cerebellar Hypoplasıa as a Manıfestatıon of 6q25 Deletıon in a Preterm Newborn

Demırel G1*, Vatansever B1, Karavar H1, Gundogdu S1, Ertan G2 and Tastekın A1

1Division of Neonatology, Istanbul Medipol University, Istanbul, Turkey

2Department of Radiology, Istanbul Medipol University, Istanbul, Turkey

*Corresponding Author :Gamze Demirel
Division of Neonatology, Faculty of Medicine, Istanbul Medipol University, Istanbul, Turkey
Tel: +90 212 4707000-8545
E-mail: [email protected]

Received: August 04, 2018; Accepted: September 07, 2018 Published: September 14, 2018

Citation: Demirel G, Vatansever B, Karavar H, Gundogdu S, Ertan G, et al. (2018) Cerebellar Hypoplasıa as a Manıfestatıon of 6q25 Deletıon in a Preterm Newborn. J Genet Disor Genet Rep 7:3. doi: 10.4172/2327-5790.1000178

Abstract

Deletions of chromosome 6q are rare and almost all have some form of craniofacial dysmorphisms and structural brain malformations such as corpus callosum agenesis, colpocephaly, polymicrogyria and hydrocephalus. Here we report a preterm infant with cerebellar and pontine hypoplasia as a presentation of terminal deletion of 6q25.

Keywords: 6q25 deletion; Cerebellar hypoplasia; Preterm infant

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