Prenatal diagnosis of Joubert syndrome

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...

Joubert syndrome and related disorders, prenatal diagnosis with ultrasound and magnetic resonance imaging Joubert sendromu ve ilişkili bozuklukların ultrasonografi ve manyetik rezonans görüntüleme ile prenatal tanısı

Address for Correspondence: Can Tekin İskender, Department of Gynecology and Obstetrics, Faculty of Medicine, Başkent University, Seyhan 01200 Adana, Turkey Phone: +90 322 233 32 15 e.mail: [email protected] ©Copyright 2011 by the Turkish-German Gynecological Education and Research Foundation Available online at www.jtgga.org doi:10.5152/jtgga.2011.75 Joubert syndrome (JBTS) is an autosomal ...

Joubert syndrome.

Joubert syndrome is an autosomal recessive condition in which there is a variable combination of central nervous system defects with a distinctive congenital retinal dystrophy, ocular motor abnormalities, and respiratory abnormalities in early infancy. The retinal dystrophy has been previously classified as a variant of Leber's congenital amaurosis. We report electrophysiologic and eye movement...

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...