"Bipolar Spectrum Disorders in Patients Diagnosed With Velo-Cardio-Facial Syndrome: Does a Hemizygous Deletion of Chromosome 22q11 Result in Bipolar Affective Disorder?" An abstract of the full ...

Diagnosis of 22q11.2 microdeletion syndrome should be considered in patients with malformation of the kidney. Dysmorphia, abnormal voice, cardiac malformations or hypoparathyroidism are clues to ...

Metabolic syndrome is a constellation of conditions that together increase the risk of type 2 diabetes, stroke, and cardiovascular problems, including heart attack. The features of metabolic syndrome ...

What is Cushing's syndrome? Cushing's syndrome is a hormonal disorder. It’s caused when you have high levels of the hormone cortisol over a long time. Cushing's syndrome is fairly rare. It most often ...

What is Zollinger-Ellison syndrome? Zollinger-Ellison syndrome (ZES) is a rare digestive disorder. If you have ZES, you likely have 1 or more tumors in the first part of the small intestine, the ...

Jean suffers from Velo-cardio-facial syndrome, which causes her to have severe learning difficulties and means she requires assistance to carry out basic tasks. Mrs Baker has been told by her doctors ...

Schizophrenia is a disorder with a heterogeneous etiology involving complex interplay between genetic and environmental risk factors. The immune system is now known to play vital roles in nervous ...

Asperger's syndrome refers to a high-functioning form of autism. Although it was once classified as its own condition, Asperger’s is no longer an official diagnosis in the Diagnostic and ...

The most frequently detected gene was PRRT2, present in 10.0% (9/82) of cases. Epileptic syndromes were diagnosed in 66 patients, predominantly West Syndrome, Dravet Syndrome and Genetic Epilepsy with ...

With the right skin care, you can make pores less noticeable. When you look in the mirror, do you feel that your skin would look more attractive if you could shrink those large pores? There’s actually ...

1 Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge, UK 2 Department of Medicine, University of Cambridge, Addenbrooke’s Hospital Correspondence to: Dr S M Park Department of Clinical ...