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Inbreeding coefficients of various populations in Europe and Asia. Offspring of biologically related persons are subject to the possible effects of inbreeding, such as congenital birth defects. The chances of such disorders are increased when the biological parents are more closely related.
Cyclopia (named after the Greek mythology characters cyclopes), also known as alobar holoprosencephaly, is the most extreme form of holoprosencephaly and is a congenital disorder (birth defect) characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities.
Although the overall frequency of disease-causing alleles does not vary much between populations, the practice of consanguineous marriage (marriage between second cousins or closer relatives) has been common in some Jewish communities, which produces a small increase in the number of children with congenital defects. [1]
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.
A large number of human gene defects can cause ectrodactyly. The most common mode of inheritance is autosomal dominant with reduced penetrance, while autosomal recessive and X-linked forms occur more rarely. [9] Ectrodactyly can also be caused by a duplication on 10q24.
Darwin's wife, Emma, was his first cousin, and he was concerned about the impact of inbreeding on his ten children, three of whom died at age ten or younger; three others had childless long-term marriages. [16] [17] [18] Humans do not seek to completely minimize inbreeding, but rather to maintain an optimal amount of inbreeding vs. outbreeding.
In Finland about one in five persons carries a gene defect associated with at least one Finnish heritage disease, and about one in 500 children born is affected. [4] Most of the gene defects are autosomal recessives , so that if both the mother and father carry the same defect, the chance that their child will have the associated disease is 1 in 4.
Fumarase deficiency is caused by a mutation in the fumarate hydratase (FH) gene in humans, which encodes the enzyme that converts fumarate to malate in the mitochondria. Other mutant alleles of the FH gene, located on human chromosome 1 at position 1q42.1, cause multiple cutaneous and uterine leiomyomata , hereditary leiomyomatosis and renal ...