Search results
Results From The WOW.Com Content Network
Turner syndrome is the only full monosomy that is seen in humans — all other cases of full monosomy are lethal and the individual will not survive development. Cri du chat syndrome – (French for "cry of the cat" after the persons' malformed larynx) a partial monosomy caused by a deletion of the end of the short arm of chromosome 5
Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features.
The trisomy 21 karyotype figure shows the chromosomal arrangement, with the prominent extra chromosome 21. Trisomy 21 is the cause of approximately 95% of observed Down syndrome, with 88% coming from nondisjunction in the maternal gamete and 8% coming from nondisjunction in the paternal gamete. [4]
In some cases, the signs and symptoms are similar to those of Down syndrome. Changes to chromosome 21 include a missing segment of the chromosome in each cell (partial monosomy 21) and a circular structure called ring chromosome 21. A ring chromosome occurs when both ends of a broken chromosome are reunited.
Amniotic band syndrome; Anal atresia; Anencephaly; Angelman syndrome; ... Trisomy 21 (Down Syndrome) Turner syndrome (Monosomy X) Twin-to-twin transfusion syndrome;
MLB player Jake Burger is honoring his daughter with Down syndrome by choosing the jersey No. 21. Since discovering Penelope's diagnosis, Burger and his wife, Ashlyn, have embraced the community ...
[citation needed] An example of trisomy in humans is Down syndrome, which is a developmental disorder caused by an extra copy of chromosome 21; the disorder is therefore also called "trisomy 21". [7] An example of monosomy in humans is Turner syndrome, where the individual is born with only one sex chromosome, an X. [8]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.