Nearly everyone — with rare exceptions — is born with 23 pairs of chromosomes that were passed down from parents through combinations of their 46 chromosomes. X and Y, the two most popularly known ...

Cystic fibrosis (CF) is an autosomal recessive condition. This means that a person will have CF only if they receive the affected gene from both parents at conception. Share on Pinterest Dalibor ...

In 1997, the very first Neandertal DNA sequence - just a small part of the mitochondrial genome - was determined from an individual discovered in the Neander Valley, Germany, in 1856. Since then, ...

Thirty Italian and 18 Spanish families with deafness were included in the study. They were recruited in several clinical genetics services and schools for the deaf from Southern Italy and Spain.

Based on the inheritance pattern, EDS can be classified as autosomal dominant, autosomal recessive, and autosomal dominant or recessive. In each of these types, a set of major and minor criteria is ...

Adrenoleukodystrophy is a rare condition associated with abnormalities in myelin, the white matter that protects nerve fibers in the spinal cord and brain. It occurs due to a mutation on the X ...

Oculodentodigital dysplasia (ODDD) is a rare congenital malformation associated with eye, face, and limb abnormalities. ODDD follows the autosomal dominant pattern of inheritance and develops due to ...

The nemaline myopathies are muscle disorders characterised by muscle weakness and hypotonia, and histologically by the presence in the muscle fibres of threadlike nemaline bodies composed mainly of ...