8q21.11 microdeletion syndrome

8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.


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PMID (PMCID)
25898976
MALE Child
Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome.
Quintela I, Barros F, Castro-Gago M, Carracedo A, Eiris J.
Am J Med Genet A. 2015;167(6):1369-73.
The 8q21.11 microdeletion syndrome (OMIM # 614230) has been recently described and is primarily characterized by intellectual disability and facial dysmorphism.