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16p11.2p12.2 microdeletion syndrome

Synonym(s) 16p11.2-p12.2 microdeletion syndrome
Monosomy 16p11.2-p12.2
Monosomy 16p11.2p12.2
Prevalence <1 / 1 000 000
Inheritance Not applicable
or Unknown
Age of onset Infancy
  • Q93.5
MeSH -
MedDRA -


Disease definition

16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.


It has been clinically and molecularly characterized in 5 patients.

Clinical description

Facial features include flat facies, downslanting palpebral fissures, low-set and malformed ears. Orofacial clefting, heart defects, short stature, feeding difficulties and hypotonia can be observed.


This syndrome is caused by an interstitial deletion encompassing 16p11.2-p12.2. These deletions arise de novo and are flanked by segmental duplications suggesting that the underlying mechanism is non-allelic homologous recombination (NAHR). They were characterized by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH).

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