Prenatal Diagnosis of WAGR Syndrome

Prenatal Diagnosis of WAGR Syndrome

Wilm's tumour, aniridia, genitourinary abnormalities, and mental retardation (WAGR) syndrome is a rare genetic disorder with an estimated prevalence of 1 in 500,000 to 1 million. It is a contiguous gene syndrome due to deletion at chromosome 11p13 in a region containing WT1 and PAX6 genes. Children with WAGR syndrome mostly present in the newborn/infancy period with sporadic aniridia. The genot...

WAGR syndrome--a case report.

Congenital anomaly syndrome consisting of Wilms tumor, aniridia, genitourinary malformations and mental retardation (WAGR) is a rare, sporadic genetic disorder characterized by a de novo deletion in the distal band of 11p13 chromosome. The syndrome is usually recognized by sporadic aniridia present at birth, often followed by the development of Wilms tumor in early childhood, but possible at an...

Prenatal diagnosis of Joubert syndrome

Introduction: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and r...

Prenatal diagnosis of Down's syndrome.

Prenatal diagnosis of Sanfilippo syndrome.

The focus of this communication is to comment on the relative importance of enzymatic and molecular genetics, potential false results and future options for prenatal diagnosis of Sanfilippo syndrome (mucopolysaccharidosis (MPS) types IIIA, IIIB, IIIC and IIID). During the provision of an international service over the past 25 years, our department has identified 7 affected out of 49 MPS III pre...