Search results
Results From The WOW.Com Content Network
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 ...
Complete androgen insensitivity syndrome causes a genetic male to have a vagina (often incompletely developed, nearly always blind-ending), breasts, and a clitoris; people with this form are raised as females. [25] Aphallia – a rare condition where a XY male is born without a penis. As of 2017, only 100 cases have been reported in literature ...
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 ...
XX male syndrome. XX male syndrome, also known as de la Chapelle syndrome, is a rare intersex condition in which an individual with a 46,XX karyotype develops a male phenotype. [2] Synonyms for XX male syndrome include 46,XX testicular difference of sex development (or 46,XX DSD) [3][4][5][6]
Gynecomastia. Gynecomastia (also spelled gynaecomastia) [ a ] is the abnormal non-cancerous enlargement of one or both breasts in males due to the growth of breast tissue as a result of a hormone imbalance between estrogens and androgens. [ 4 ][ 5 ] Gynecomastia can cause significant psychological distress or unease.
Achondroplasia. Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. [3] It is the most common cause of dwarfism [4] and affects about 1 in 27,500 people. [3] In those with the condition, the arms and legs are short, while the torso is typically of normal length. [3]
Multiple Endocrine Neoplasia type 1 (MEN1) is a rare hereditary endocrine cancer syndrome characterized primarily by tumors of the parathyroid glands (95% of cases), endocrine gastroenteropancreatic (GEP) tract (30–80% of cases), and anterior pituitary (15–90% of cases). [19] Other endocrine and non-endocrine neoplasms including ...