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Genetics of Down syndrome. Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole ( trisomy 21) or part (such as due to translocations ). The effects of the extra copy varies greatly from individual to individual, depending on the extent of the extra copy ...
Down syndrome (also known by the karyotype 47,XX,+21 for females and 47,XY,+21 for males) [98] is mostly caused by a failure of the 21st chromosome to separate during egg or sperm development, known as nondisjunction. [91] As a result, a sperm or egg cell is produced with an extra copy of chromosome 21; this cell thus has 24 chromosomes.
Genetic disorder. A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single ...
Down syndrome is a genetic disorder that often results in distinct physical differences and intellectual disability. According to the Centers for Disease Control, each year about 6,000 babies are ...
March 21, 2024 at 4:57 PM. Nick Safier and his little brother Gabe share the best ritual. When Nick, 28, leaves home and returns, his brother Gabe, 21, who has Down syndrome, gives him a big hug ...
The word pedigree is a corruption of the Anglo-Norman French pé de grue or "crane's foot", either because the typical lines and split lines (each split leading to different offspring of the one parent line) resemble the thin leg and foot of a crane [4] or because such a mark was used to denote succession in pedigree charts.
Haemophilia figured prominently in the history of European royalty in the 19th and 20th centuries. Queen Victoria and her husband, Prince Albert, of the United Kingdom, through two of their five daughters – Princess Alice and Princess Beatrice – passed the mutation to various royal houses across the continent, including the royal families ...
File:Autosomal Dominant Pedigree Chart.svg. Size of this PNG preview of this SVG file: 600 × 600 pixels. Other resolutions: 240 × 240 pixels | 480 × 480 pixels | 768 × 768 pixels | 1,024 × 1,024 pixels | 2,048 × 2,048 pixels. This is a file from the Wikimedia Commons. Information from its description page there is shown below.