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Glypican 2 (GPC2), also known cerebroglycan, is a protein which in humans is encoded by the GPC2 gene. The GPC2 gene is at locus 7q22.1 and encodes for a 579 amino acid protein. The C-terminus of GPC2 has the GPI attachment site, at G554, and the N-terminus encodes a signal peptide, from M1 to S24.
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.
Fitz-Hugh–Curtis syndrome is a rare complication of pelvic inflammatory disease (PID) involving liver capsule inflammation [1] leading to the formation of adhesions presenting with the clinical syndrome of right upper quadrant (RUQ) pain.
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, genetic background ...
Leigh syndrome. Leigh syndrome (also called Leigh disease and subacute necrotizing encephalomyelopathy) is an inherited neurometabolic disorder that affects the central nervous system. It is named after Archibald Denis Leigh, a British neuropsychiatrist who first described the condition in 1951. [2]
Causes. Third copy of chromosome 13. Treatment. Supportive care. Prognosis. Poor. Named after. Klaus Patau. 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.
Lucia Hippolito, Brazilian journalist and political pundit. Jenna Jameson, pornographic film actress. [19] Christopher Cross, American singer-songwriter and guitarist was diagnosed with GBS in 2020. Luci Baines Johnson, daughter of President Lyndon Johnson and Lady Bird Johnson, was diagnosed and under treatment for GBS in April 2010. [20]
Sofía Isabel Jirau González (born March 26, 1997) is a Puerto Rican model with Down syndrome. Personal life. Jirau was born in Puerto Rico to Frankie Jirau and Mimi González. She is the second eldest of four children.
The General Assembly of the United Nations has decided to observe it each year since 2012. [2] Every year on March 21, World Down Syndrome Day is observed to create awareness about Down syndrome. It is a condition in which a child is born with an extra 21st chromosome .
Down syndrome research. Research of Down syndrome-related genes is based on studying the genes located on chromosome 21. In general, this leads to an overexpression of the genes. [1] [2] Understanding the genes involved may help to target medical treatment to individuals with Down syndrome. It is estimated that chromosome 21 contains 200 to 250 ...