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BMJ Publishing Group, Journal of Neurology, Neurosurgery and Psychiatry, 5(73), p. 600-601, 2002

DOI: 10.1136/jnnp.73.5.600

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Myoclonic movement disorder associated with microdeletion of chromosome 22q11

Journal article published in 2002 by C. ffrench-Constant, D. Trump, C. Ffrench Constant, D. J . Dick, D. Baralle ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.