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Female genital mutilation (FGM), also known as female genital cutting (FGC), female circumcision, or female genital mutilation/cutting (FGM/C), refers to "all procedures involving partial or total removal of the external female genitalia or other surgery of the female genital organs whether for cultural, religious or other non-therapeutic reasons."
Two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene and are referred to as genetic carriers. Each parent with a defective gene normally do not have symptoms. [23]
Eric Engel first proposed the concept of uniparental disomy in 1980 as both homologous chromosomes are inherited from one parent, with no contribution (for that chromosome) from the other parent. [ 11 ] [ 12 ] Eight years later in 1988, the first clinical case of UPD was reported and involved a girl with cystic fibrosis and short stature who ...
Most people have two copies of chromosome 21, while those with three copies of chromosome 21 (trisomy 21) have Down syndrome. Researchers working on the Human Genome Project announced in May 2000 that they had determined the sequence of base pairs that make up this chromosome. [ 5 ]
Human genetic disorders can be caused by ring chromosome formation. Although ring chromosomes are very rare, they have been found in all human chromosomes. Symptoms seen in patients carrying ring chromosomes are more likely to be caused by the deletion of genes in the telomeric regions of affected chromosomes, rather than by the formation of a ring structure itself. [5]
Sibling marriage is legally prohibited in most countries worldwide, [citation needed] with a partial exception being Sweden, where marriages between half-siblings are legally permitted. Innate sexual aversion between siblings forms due to close association in childhood, in what is known as the Westermarck effect. Children who grow up together ...
Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. [2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [2]
Changes to chromosome 5 include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial trisomy 5p or 5q), a missing segment of the long arm of the chromosome in each cell (partial monosomy 5q), and a circular structure called ring chromosome 5. A ring chromosome occurs when both ends of a broken chromosome are ...