July 22, 2013: Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities.
Silencing an extra chromosome: Researchers turn off Down’s syndrome genes
Researchers turn off Down’s syndrome genes The insertion of one gene can muzzle the extra copy of chromosome 21 that causes Down’s syndrome, according to a study published today in Nature. The method...
September 23, 2013: 9q34 deletion syndrome, also known as Kleefstra syndrome, is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability. The facial features typically described include arched eyebrows, small head circumference, midface hypoplasia, prominent jaw and a pouting lower lip. Individuals with this disease may often have speech impediments, such as speech delays.
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13 or trisomy D), or because each cell contains an extra partial copy of the chromosome (i.e., Robertsonian translocation) or because of mosaic Patau syndrome.
Fluorescence micrograph showing HeLa (human cancer) cells during the stages of mitosis. The microtubules of the cytoskeleton/spindle are fluorescing red, the DNA (chromosomes) green. The stages shown are (clockwise from the top):prophase, prometaphase, metaphase, anaphase, telophase, cytokinesis, end of cytokinesis, interphase. Credit: Individual scientists, University of Dundee, Wellcome Images.
September 15, 2013: Peutz–Jeghers syndrome, also known as hereditary intestinal polyposis syndrome, is an autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa. Mucocutaneous lesions causing patches of hyperpigmentation in the mouth and on the hands and feet. The oral pigmentations are the first on the body to appear, and play an important part in early diagnosis.
Genes, Chromosomes, and Disease: From Simple Traits, to Complex Traits, to Personalized Medicine (FT Press Science) (Kindle Edition) http://www.amazon.com/dp/B004SH6XPM/?tag=wwwmoynulinfo-20 B004SH6XPM