Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical Microdeletions.

Neurofibromatosis type 1 is a tumor predisposition syndrome inherited in autosomal dominant manner. Besides the intragenic loss-of-function mutations in gene, large deletions encompassing the gene and its flanking regions are responsible for the development of the variable clinical phenotype. These large deletions titled as microdeletions lead to a more severe clinical phenotype than those observed in patients with intragenic mutations.

Antiphospholipid antibodies in relation to sterility/infertility.

Of the systemic autoimmune diseases that lead to sterility/infertility, antiphospholipid syndrome (APS) has an outstanding importance; it may be associated with abortion and premature birth which are included in its diagnostic criteria, as well as preeclampsia, pregnancy-induced hypertension, foetal retardation, miscarriage, stillbirth and sterility. Between 2004 and 2009, on the Department of Immunology in the Zala County Hospital, 100 female patients with sterility (st)/infertility (if) (33/67), (mean age: 34.08 years) underwent, in addition to history taking and physical examination, an assessment by immune-serologic tests (ANA, anti-dsDNA, ENA-Profile, anti-TPO, a-sperm, aCL, aPS, aβ2GP1, aANX, and aPT).

[Phenotypic variants of A3243G mitochondrial DNA mutation in a Hungarian family].

The first Hungarian case with typical features of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) in a young girl is presented. MELAS is a multisystem disorder inherited by the mitochondrial DNA with onset typically in childhood. Our patient presented the first symptoms at the age of 6 years with recurrent vomiting, nausea and transient visual loss.