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Trisomy 21. 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 ...
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 ...
There are some distinct physical features that typically occur in individuals with Down syndrome: Flattened face. Upturned eyelids. Protruding tongue. Small head. Shorter stature. Intellectual ...
Congenital iodine deficiency syndrome (CIDS) is a medical condition present at birth marked by impaired physical and mental development, due to insufficient thyroid hormone (hypothyroidism) often caused by insufficient dietary iodine during pregnancy. It is one cause of underactive thyroid function at birth, called congenital hypothyroidism ...
Progeria is a specific type of progeroid syndrome, also known as Hutchinson–Gilford syndrome or Hutchinson–Gilford progeroid syndrome (HGPS). [8] A single gene mutation is responsible for causing progeria. The affected gene, known as lamin A (LMNA), makes a protein necessary for holding the cell nucleus together.
Down syndrome is a genetic condition in which people are born with an extra copy of chromosome 21. This extra copy affects the development of the body and brain, causing a range of physical and mental impairments for the individual. Fragile X syndrome, most frequent among males, is thought to cause autism and intellectual disability.
The Brushfield spots are the spots between the inner and outer red circles. Brushfield spots are small, white or greyish/brown spots on the periphery of the iris in the human eye due to aggregation of connective tissue, a normal constituent of the iris stroma. The spots are named after the physician Thomas Brushfield, who first described them ...
Patau syndrome. 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. The extra genetic material disrupts normal development, causing multiple and complex organ defects. This can occur either because each cell contains a full extra copy ...