Myoclonic movement disorder associated with microdeletion of chromosome 22q111


Baralle, D., Trump, D., Ffrench-Constant, C. and Dick, D.J . (2002) Myoclonic movement disorder associated with microdeletion of chromosome 22q111. Journal of Neurology Neurosurgery and Psychiatry, 73, (5), 600-601. (doi:10.1136/jnnp.73.5.600).

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Original Publication URL: http://dx.doi.org/10.1136/jnnp.73.5.600

Description/Abstract

With a prevalence of approximately 1:4000 interstitial chromosome 22q11 deletion within the DiGeorge syndrome critical region is the commonest chromosome microdeletion syndrome. The better known clinical features of this disorder are cardiac abnormalities, short stature, palatal abnormalities or velopharangeal insufficiency, renal abnormality, hypocalcaemia, psychotic symptoms, learning difficulties, and developmental delay.1

There is wide variability in this clinical spectrum and many case reports drawing attention to new clinical features have been published. Alongside the larger studies of 22q11 cohorts these have proved useful in delineating this particular syndrome.

Item Type: Article
ISSNs: 0022-3050 (print)
Related URLs:
Keywords: 22q11 deletion; myoclonic movement disorder
Subjects: Q Science > Q Science (General)
R Medicine > R Medicine (General)
R Medicine
Divisions: University Structure - Pre August 2011 > School of Medicine
ePrint ID: 59464
Date Deposited: 03 Sep 2008
Last Modified: 27 Mar 2014 18:41
URI: http://eprints.soton.ac.uk/id/eprint/59464

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