Orphanet: 16p11.2p12.2 microdeletion syndrome

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16p11.2p12.2 microdeletion syndrome

ORPHA:261211

Classification level: Disorder

Synonym(s):
- Del(16)(p11.2p12.2)
- Monosomy 16p11.2p12.2
Prevalence: <1 / 1 000 000
Inheritance: Not applicable or Unknown
Age of onset: Infancy, Neonatal
ICD-10: Q93.5
ICD-11: LD44.G1
OMIM: 613604
UMLS: C4304597
MeSH: -
GARD: -
MedDRA: -

Summary

Epidemiology

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.

Etiology

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 - Last update: May 2011

A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Greek (2011, pdf) Japanese (2011, pdf) Polski (2011, pdf)

Detailed information

General public

Article for general public
Français (2013, pdf) - Unique
Nederlands (2013, pdf) - Unique
Arabic (2019, pdf) - Unique
English (2019, pdf) - Unique
English (2020, pdf) - Unique
Français (2022, pdf) - Unique

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