Clinical features of chromosome 22q11 deletion.

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...

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.

We report monozygotic twins concordant for 22q11.2 deletion but discordant for clinical phenotype. Both boys show the typical dysmorphic features with short palpebral fissures, square nasal tip, small mouth, and both have nasal speech, but only one twin had a heart defect. They show that the phenotypic variability seen in this microdeletion syndrome cannot be explained on the basis of genotypic...

Chromosome 22q11 deletion presenting as the Potter sequence.

A female fetus with the Potter sequence, caused by unilateral renal agenesis and contralateral multicystic renal dysplasia, was found to have a submicroscopic deletion in chromosome 22q11. The only associated anomaly was agenesis of the uterus and oviducts (Von Mayer-Rokitansky-Küster anomaly). The deletion was inherited from the father, who presented the typical velocardiofacial syndrome pheno...