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16p11.2p12.2 microdeletion syndrome

Orpha number ORPHA261211
Synonym(s) 16p11.2-p12.2 microdeletion syndrome
Del(16)(p11.2p12.2)
Monosomy 16p11.2-p12.2
Monosomy 16p11.2p12.2
Prevalence <1 / 1 000 000
Inheritance Not applicable
Unknown
Age of onset Infancy
Neonatal
ICD-10
  • Q93.5
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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. 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).

Expert reviewer(s)

  • Dr Nicole MORICHON-DELVALLEZ

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