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

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

Background Velo-cardio-facial syndrome (VCFS) is associatedwith interstitial deletions of chromosome 22q11.About 30% of patientswithVCFS

Declaration of interest Funding fromthe PPPHealthcare Medical Trust, London,UK.Collection of probands in Bulgaria fundedby the Janssen Research Foundation and inthe UK by the Medical Research Council. Velo-cardio-facial syndrome (VCFS) is a genetic disorder associated with characteristic dysmorphology, cleft palate, cardiac anomalies and major psychiatric disorders, including schizophrenia (Shp...

Clinical features of pulmonary aspergillosis associated with interstitial pneumonia.

OBJECTIVE We retrospectively investigated the clinical features of pulmonary aspergillosis associated with interstitial pneumonia. METHODS We reviewed the medical records of all patients treated for interstitial pneumonia with or without pulmonary aspergillosis at our institution between April 2006 and August 2012 and evaluated the clinical features as well as risk and prognostic factors for ...

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...