Background The mitochondrial DNA (mDNA) 3243A>G variant is the most common pathogenic variant of the mDNA. To interpret results of clinical trials in mitochondrial disease, it is important to have a ...

Richard I Kelley a, ; Raoul C M Hennekam b; a The Johns Hopkins University, Kennedy Krieger Institute, 707 North Broadway, Baltimore, Maryland 21205, USA, b Institute for Human Genetics and Department ...

Introduction. Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disease with an estimated prevalence of 1/50001 and is thought to be present in all races and parts of the world.

Type 1 diabetes mellitus (T1DM) is defined as an autoimmune disorder and has enormous complexity and heterogeneity. Although its precise pathogenic mechanisms are obscure, this disease is widely ...

Having identified teratogenic factors, primary prevention of congenital defects is possible by the implementation of specific measures in pregnant women or those planning pregnancy. Our current ...

We report a child of 3 years 9 months with the Marshall-Smith syndrome (MSS), characterised by the typical facial features, developmental delay, and advanced bone age. After the diagnosis was made at ...

Rett syndrome (RS) is a severe neurodevelopmental disorder that contributes significantly to severe intellectual disability in females worldwide. It is caused by mutations in MECP2 in the majority of ...

Hereditary haemorrhagic telangiectasia (HHT) is diagnosed clinically by the Curaçao Criteria of spontaneous recurrent nosebleeds, mucocutaneous telangiectasia at characteristic sites, visceral ...

Two patients with trisomy 8 mosaicism, confirmed by trypsin-Giemsa banding are described. While the majority of patients with this aneuploidy have been mosaics, the phenotypes of the complete and ...

Background: Li–Fraumeni syndrome is an autosomal dominant cancer predisposition syndrome caused by germline mutations in the TP53 gene. The frequency of germline de novo TP53 mutations is largely ...

A patient with features of Turner's syndrome is reported. In her karyotype there were 46 chromosomes including 15 chromosomes in the C group and one metacentric marker the size of a No. 16. This ...

The breakpoints of seven interstitial deletions of the long arm of chromosome 16 and two ring chromosomes of this chromosome were mapped by in situ hybridisation or by analysis of mouse/human somatic ...