Myoclonic movement disorder associated with microdeletion of chromosome 22q11

Prevalence of 22q11 microdeletion.

Microdeletion 22q11 and oesophageal atresia.

Oesophageal atresia (OA) is a congenital defect associated with additional malformations in 30-70% of the cases. In particular, OA is a component of the VACTERL association. Since some major features of the VACTERL association, including conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 (del(22q11.2)), we have screened for del(22q...

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions.

Isolation of the subclavian artery associated with chromosome 22q11 deletion.

An interesting report on isolation of the subclavian artery appeared in the recent issue of this journal. The authors reported 3 patients with interruption of the aortic arch between the carotid arteries ('type B'), isolation of the subclavian artery, and deletion of the chromosome 22ql l . Isolation of the subclavian artery is a rare anomaly. Although the authors discussed only briefly the eti...

Truncus arteriosus communis associated with chromosome 22q11 deletion.

OBJECTIVES The purpose of this study was to clarify characteristics of truncus arteriosus communis associated with chromosome 22q11 deletion (del 22q11). BACKGROUND DiGeorge syndrome and conotruncal anomaly face syndrome are associated with del 22q11 (hemizygosity). In 30% of cases, truncus arteriosus communis is associated with the deletion. METHODS Fifteen consecutive patients with truncu...