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.
The Paralympic Games or Paralympics, also known as the Games of the Paralympiad, is a periodic series of international multisport events involving athletes with a range of disabilities. There are Winter and Summer Paralympic Games, which since the 1988 Summer Olympics in Seoul, South Korea, have been held shortly after the corresponding Olympic Games. All Paralympic Games are governed by the International Paralympic Committee (IPC).
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.
Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability.
Robertsonian translocation (ROB) is a chromosomal abnormality where the entire long arms of two different chromosomes become fused to each other. It is the most common form of chromosomal translocation in humans, affecting 1 out of every 1,000 babies born. It does not usually cause medical problems, though some people may produce gametes with an incorrect number of chromosomes, resulting in a risk of miscarriage. In rare cases this translocation results in Down syndrome and Patau syndrome. Robertsonian translocations result in a reduction in the number of chromosomes. A Robertsonian evolutionary fusion, which may have occurred in the common ancestor of humans and other great apes, is the reason humans have 46 chromosomes while all other primates have 48. Detailed DNA studies of chimpanzee, orangutan, gorilla and bonobo apes has determined that where human chromosome 2 is present in our DNA in all four great apes this is split into two separate chromosomes typically numbered 2a and 2b. Similarly, the fact that horses have 64 chromosomes and donkeys 62, and that they can still have common, albeit usually infertile, offspring, may be due to a Robertsonian evolutionary fusion at some point in the descent of today's donkeys from their common ancestor.
Cri du chat syndrome is a rare genetic disorder due to a partial chromosome deletion on chromosome 5. Its name is a French term referring to the characteristic cat-like cry of affected children. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 50,000 live births across all ethnicities and is more common in females by a 4:3 ratio.
International Mother Language Day is a worldwide annual observance held on 21 February to promote awareness of linguistic and cultural diversity and to promote multilingualism. First announced by UNESCO on 17 November 1999, it was formally recognized by the United Nations General Assembly with the adoption of UN resolution 56/262 in 2002.
World Water Day is an annual United Nations (UN) observance day held on the 22nd of March that highlights the importance of fresh water. The day is used to advocate for the sustainable management of freshwater resources. The theme of each year focuses on topics relevant to clean water, sanitation and hygiene (WASH), which is in line with the targets of Sustainable Development Goal 6. The UN World Water Development Report (WWDR) is released each year around World Water Day.
Jérôme Jean Louis Marie Lejeune was a French pediatrician and geneticist, best known for his work on the link of diseases to chromosome abnormalities, most especially the link between Down Syndrome and trisomy-21 and cri du chat syndrome, amongst several others, and for his subsequent strong opposition to the improper and immoral use of amniocentesis prenatal testing for eugenic purposes through selective and elective abortion. He is venerated in the Catholic Church, having been declared Venerable by Pope Francis on 21 January 2021.
Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole or part. The effects of the extra copy varies greatly from individual to individual, depending on the extent of the extra copy, genetic background, environmental factors, and random chance. Down syndrome can occur in all human populations, and analogous effects have been found in other species, such as chimpanzees and mice. In 2005, researchers have been able to create transgenic mice with most of human chromosome 21.
The genetics and abortion issue is an extension of the abortion debate and the disability rights movement. Since the advent of forms of prenatal diagnosis, such as amniocentesis and ultrasound, it has become possible to detect the presence of congenital disorders in the fetus before birth. Specifically, disability-selective abortion is the abortion of fetuses that are found to have non-fatal mental or physical defects detected through prenatal testing. Many prenatal tests are now considered routine, such as testing for Down syndrome. Women who are discovered to be carrying fetuses with disabilities are often faced with the decision of whether to abort or to prepare to parent a child with disabilities.
A sock is a piece of clothing worn on the feet and often covering the ankle or some part of the calf. Some types of shoes or boots are typically worn over socks. In ancient times, socks were made from leather or matted animal hair. In the late 16th century, machine-knit socks were first produced. Until the 1800s, both hand-made and machine-knit socks were manufactured, with the latter technique becoming more common in the 19th century, and continuing until the modern day.
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.
Tetrasomy X, also known as 48,XXXX, is a chromosomal disorder in which a female has four, rather than two, copies of the X chromosome. It is associated with intellectual disability of varying severity, characteristic "coarse" facial features, heart defects, and skeletal anomalies such as increased height, clinodactyly, and radioulnar synostosis. Tetrasomy X is a rare condition, with few medically recognized cases; it is estimated to occur in approximately 1 in 50,000 females.
Pentasomy X, also known as 49,XXXXX, is a chromosomal disorder in which a female has five, rather than two, copies of the X chromosome. Pentasomy X is associated with short stature, intellectual disability, characteristic facial features, heart defects, skeletal anomalies, and pubertal and reproductive abnormalities. The condition is exceptionally rare, with an estimated prevalence between 1 in 85,000 and 1 in 250,000.
Trisomy X, also known as triple X syndrome and characterized by the karyotype 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it.
Freebird is a 2021 Canadian 2D animated short film written and directed by Michael Joseph McDonald and Joe Bluhm, and co-led by creative director Nicholas Herd. The plot follows Jon, a boy with Down syndrome, navigating the world with a loving mother, an absent father, and a life-long crush. Forty-five years of Jon's life are depicted in five minutes with no dialogue. The film is a joint production between Tonic DNA and L’Arche, featuring original music by Jordan Hart.
John's Crazy Socks is a New York-based social enterprise selling socks. It was founded by a father-son duo in 2016 and is known for hiring disabled people, donating to charity partners and their customer service.
John Lee Cronin is an American entrepreneur and advocate who has Down syndrome. He is the co-founder of John's Crazy Socks, a social enterprise with a mission to spread happiness. Cronin is the first entrepreneur with Down syndrome to win the Ernst & Young Entrepreneur of the Year Award and is also the recipient of the Henry Viscardi Achievement Award. He was named an alternate to the U.S. National Snowshoe Team for the Special Olympics World Games in March 2017.
