遺伝障害と遺伝レポートのジャーナル

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

Demırel G, Vatansever B, Karavar H, Gundogdu S, Ertan G and Tastekın A

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.