Aberrations of the long arm of chromosome 1 have been linked to many diseases, both in acquired somatic neoplastic conditions and constitutional genetic disorders. These abnormalities include ...

Background Molecular genetic diagnoses are critical to prevention and treatment of inherited polyposis and colorectal cancer. 19 genes responsible for these conditions are known, but many severely ...

We report the first case of maternal uniparental disomy of chromosome 14 in humans. The male proband inherited a balanced 13;14 Robertsonian translocation from his mother. Molecular studies showed ...

Outcome of infection varies greatly among people, and in the case of three very different viruses, it is determined by apolipoprotein E ( APOE ) genotype. APOE might affect outcome of malaria ...

We report five patients with ectodermal dysplasia, ectrodactyly associated with syndactyly or cleft hand or both, and, in addition, macular dystrophy which was presumed to be progressive, in an ...

Silver–Russell syndrome (SRS MIM180860) is a disorder characterised by intrauterine and/or postnatal growth restriction and typical facies. However, the clinical picture is extremely diverse due to ...

Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in this condition, FRDA , has led to ...

The Annual Reviews series has been a source of state of the art reviews in yearly volumes on Genetics, Medicine, Neuroscience, Microbiology, etc. The series started in 1932 with the Annual Review of ...

Background Mitochondrial DNA (mtDNA) disorders have a high clinical variability, mainly explained by variation of the mutant load across tissues. The high recurrence risk of these serious diseases ...

Cowden syndrome (CS, MIM 158350) is an autosomal dominant disorder with age related penetrance characterised by multiple hamartomas and a high risk of breast, thyroid, and perhaps other cancers. These ...

Many genetic testing methodologies are biased towards picking up structural variants (SVs) that alter copy number. Copy-neutral rearrangements such as inversions are therefore likely to suffer from ...

Schwartz-Jampel syndrome is a rare autosomal recessive disorder. Joint contractures, generalised myotonia, skeletal anomalies, and facial dysmorphism are common features; malignant hyperthermia is a ...