Article
Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature.
European journal of medical genetics - 1 Oct 2020
Lengyel Anna, Pinti Éva, Pikó Henriett, Jávorszky Eszter, David Dezső, Tihanyi Mariann, Gönczi Éva, Kiss Eszter, Tóth Zsuzsa, Tory Kálmán, Fekete György, Haltrich Irén
Abstract excerpt
The short arm of chromosome 16 (16p) is enriched for segmental duplications, making it susceptible to recurrent, reciprocal rearrangements implicated in the etiology of several phenotypes, including intellectual disability, speech disorders, developmental coordination disorder, autism spectrum disorders, attention deficit hyperactivity disorders, obesity and congenital skeletal disorders. In our clinical study 73...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.