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Myoclonic movement disorder associated with microdeletion of chromosome 22q111

Myoclonic movement disorder associated with microdeletion of chromosome 22q111
Myoclonic movement disorder associated with microdeletion of chromosome 22q111
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.
22q11 deletion, myoclonic movement disorder
0022-3050
600-601
Baralle, D.
faac16e5-7928-4801-9811-8b3a9ea4bb91
Trump, D.
3bf4960e-1b72-4a77-929e-7179f9d991b5
Ffrench-Constant, C.
d9c008e9-ae0f-4664-adcd-c32abf95381d
Dick, D.J .
b6a49af3-00f1-4828-81b7-a7f55eca1d98
Baralle, D.
faac16e5-7928-4801-9811-8b3a9ea4bb91
Trump, D.
3bf4960e-1b72-4a77-929e-7179f9d991b5
Ffrench-Constant, C.
d9c008e9-ae0f-4664-adcd-c32abf95381d
Dick, D.J .
b6a49af3-00f1-4828-81b7-a7f55eca1d98

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).

Record type: Article

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.

Full text not available from this repository.

More information

Published date: 2002
Keywords: 22q11 deletion, myoclonic movement disorder

Identifiers

Local EPrints ID: 59464
URI: http://eprints.soton.ac.uk/id/eprint/59464
ISSN: 0022-3050
PURE UUID: 3b7a719c-10b7-4cec-a49c-8b068ded5847
ORCID for D. Baralle: ORCID iD orcid.org/0000-0003-3217-4833

Catalogue record

Date deposited: 03 Sep 2008
Last modified: 20 Jul 2019 00:50

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