HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER		Author Keyword(s) Vol Page [Advanced]

This Article Full Text Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Baralle, D Articles by Dick, D J Search for Related Content PubMed PubMed Citation Articles by Baralle, D Articles by Dick, D J

Myoclonic movement disorder associated with microdeletion of chromosome 22q11

¹ Department of Medical Genetics, Box 134, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2QQ, UK
² Department of Neurology, Norfolk and Norwich Hospital, Colney Lane, Norwich NR4 7UZ, UK

Correspondence to:
Correspondence to:
Dr D Baralle, Department of Medical Genetics, Box 134, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2QQ, UK;
diana.baralle@addenbrookes.nhs.uk

Keywords: 22q11 deletion; myoclonic movement disorder

The first 150 words of the full text of this article appear below.

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.

Case report
We present a family where the proband at 3 years of age exhibited the typical facial features of deletion of chromosome 22q11 (fig 1a) of low set posteriorly rotated ears, small mouth and mandible, short philtrum, and short palpebral fissures, as well as developmental delay. His height was on the fourth centile and he also had pectus carinatum. His mother (fig 1b. . . [Full text of this article]