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16p11.2 Deletion Syndrome

Known as: Chromosome 16p11.2 Deletion Syndrome 
A microdeletion at 16p11.2, characterized by a predisposition to obesity, developmental delay and autism spectrum disorders.
National Institutes of Health

Related topics

Related topics

5 relations

Broader (5)

Autistic DisorderChromosome DeletionChromosomes, Human, Pair 16Congenital chromosomal disease

Papers overview

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2019
2019
Een meisje met het 16p11.2-deletiesyndroom
16p11.2 deletion syndrome is one of the most prevalent microdeletion syndromes in the world. Nevertheless, many doctors are not… 
2019
2019
Chromosomal microarray analysis of 339 fetuses with increased nuchal translucency and normal karyotype
Objective To explore the value of chromosome microarray analysis (CMA) in determining the genetic etiology of fetuses with… 
2016
2016
The diagnostic distal 16p11.2 deletion syndrome in a preterm infant