Polymorphisms in folate pathway genes are not associated with somatic nondisjunction in turner syndrome.

Folate metabolism dysfunction can lead to DNA hypomethylation and abnormal chromosomal segregation. Previous investigations of this association have produced controversial results. Here we performed a case-control study in patients with Turner syndrome (TS) to determine the effects of genetic polymorphisms of folate pathway genes as potential risk factors for somatic chromosomal nondisjunction.

Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case.

Turner syndrome (TS) is a common genetic disorder in females associated with the absence of complete or parts of a second sex chromosome. In 5-12% of patients, mosaicism for a cell line with a normal or structurally abnormal Y chromosome is identified. The presence of Y-chromosome material is of medical importance because it results in an increased risk of developing gonadal tumours and virilisation.

A clinical study of 77 patients with mucopolysaccharidosis type II.

Aim: This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II).

Methods: Details of the patients and their disease manifestations were obtained from a review of medical records, interviews with the patients and/or their families, and physical examination of the patients.

Results: Mean birth weight was 3360 g, median age at onset of symptoms was 18 months and median age at diagnosis was 6 years.