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Chromosome 7 is one of the 23 pairs of chromosomes in humans, who normally have two copies of this chromosome. Chromosome 7 spans about 160 million [ 4 ] base pairs (the building material of DNA ) and represents between 5 and 5.5 percent of the total DNA in cells .
7p22.1 microduplication syndrome (also called Trisomy 7p22.1) is a genetic disorder which is characterized by cranial and facial dysmorphisms, intellectual disability, and motor-speech delays. [1] It is caused by a duplication of the p22.1 region of chromosome 7.
7q11.23 duplication syndrome (also called dup7 or 7dup or duplication of the Williams-Beuren syndrome critical region) is a rare genetic syndrome caused by micro-duplication of 1.5-1.8 mega base in section q11.23 of chromosome 7.
[7] The most common symptoms of Williams syndrome are heart defects and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy and low muscle tone. People with WS tend to have widely spaced teeth, a long philtrum, and a flattened nasal bridge. [8] Microcephaly is present in one-third of affected individuals.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Silver–Russell syndrome, also called Silver–Russell dwarfism, is a rare congenital growth disorder. In the United States it is usually referred to as Russell–Silver syndrome, and Silver–Russell syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism.
Acute stress disorder includes similar symptoms to PTSD — the primary difference is the timeframe. ASD develops right after trauma occurs, within the first three days, and only lasts up to four ...
These symptoms are often noticed only at puberty, although this is one of the most common chromosomal disorders, occurring in one to two per 1,000 live births. [11] It is named after American endocrinologist Harry Klinefelter , who identified the condition in the 1940s, along with his colleagues at Massachusetts General Hospital .