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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. There are over 6,000 known genetic disorders in humans.
When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). [3] There are well over 6,000 known genetic ...
This genetic abnormality can result in the birth of a normal child who has no obvious disability. [1] It is associated with abnormalities in the growth of the offspring and in the placenta. [ 2 ] Isodisomy may be a common phenomenon in human cells, and "might play a role in the pathogenesis of various nonmalignant disorders and might explain ...
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 ...
X-linked recessive inheritance. X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.
Category: Genetic disorders by inheritance. ... Autosomal dominant disorders (3 C, 211 P) Autosomal recessive disorders (5 C, 441 P) M. Mitochondrial diseases (25 P) X.
GATAD2B-associated neurodevelopmental disorder; Genetics of GnRH deficiency conditions; Global Genes; Glutaminase deficiency; Glycogen storage disease type IX; Gollop-Wolfgang complex; GOSR2-related progressive myoclonus ataxia
Familial adenomatous polyposis can have different inheritance patterns and different genetic causes. When this condition results from mutations in the APC gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. The incidence of malignancy in these cases approaches 100%.