1q44 microdeletion syndrome

1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

Seizure

Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures.


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(per page)
PMID (PMCID)
9856570
MALE Adult
Association of terminal chromosome 1 deletion with sertoli cell-only syndrome.
Hathout EH, Thompson K, Baum M, Dumars KW.
Am J Med Genet. 1998;80(4):396-8.
We report on del(1)(q44), developmental delay, cryptorchidism, and seizure disorder in a 19-year-old man.