WAGR syndrome, Causes, Signs and Symptoms, DIagnosis and Treatment. скачать в хорошем качестве

WAGR syndrome, Causes, Signs and Symptoms, DIagnosis and Treatment.

. Chapters 0:00 Introduction 0:49 Causes of WAGR syndrome 2:03 Symptoms of WAGR syndrome 2:51 Autism 3:20 Diagnosis of WAGR syndrome 3:55 Treatment for WAGR syndrome WAGR syndrome (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour syndrome) is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour (a tumour of the kidneys), Aniridia (absence of the coloured part of the eye, the iris), Genitourinary anomalies, and mental Retardation.[1] The G is sometimes instead given as "gonadoblastoma," since the genitourinary anomalies can include tumours of the gonads (testes or ovaries).[2] Some WAGR syndrome patients show severe childhood obesity and hyperphagia; the acronym WAGRO (O for obesity) has been used to describe this category and may be associated with the coinciding loss of BDNF a gene that is also on chromosome 11.[3][4] The condition, first described by Miller et al. in 1964 in its association with other congenital malformations,[5] results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes.[3] It is possible for those with WAGR syndrome to develop Wilms tumor, a rare form of kidney cancer.[6]