Prenatal diagnosis of 20p13 microdeletion syndrome

Isolated hypermethylation of GRB10 (7p12.2) in a Silver-Russell syndrome patient carrying a 20p13 microdeletion.

To the Editor : Silver–Russell syndrome (SRS; OMIM 180860) is an imprinting disorder characterized by primordial growth retardation and a typical facial gestalt. Maternal uniparental disomy of chromosome 7 (upd(7)mat) is detectable in 7–10% of patients, and hypomethylation of the imprinting control region 1 (ICR1) in 11p15 accounts for up to 62%. On chromosome 7, two candidate genes have been s...

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...

Prenatal Diagnosis of Down Syndrome

Chromosomal aberration is a phenomenon occurring relatively commonly in the development process. Chromosomal aberration is known to have various causes, and its frequency has been reported to vary particularly according to maternal age. Though different among reports, the frequency was around 0.6-0.8% in analysis with all childbirths1 and around 2-3% in case childbirths were reclassified based ...