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Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. [ 1 ] [ 2 ] It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex . [ 3 ]
Since CAH is a recessive gene, both the mother and father must be recessive carriers of CAH for a child to have CAH. Due to advances in modern medicine, those couples with the recessive CAH genes have an option to prevent CAH in their offspring through preimplantation genetic diagnosis (PGD).
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal hyperplasia (CAH) which produces a higher than normal amount of androgen, [1] resulting from a defect in the gene encoding the enzyme steroid 11β-hydroxylase (11β-OH) which mediates the final step of cortisol synthesis in the adrenal. 11β-OH CAH results in hypertension due to excessive ...
A hereditary carrier (genetic carrier or just carrier), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease. Carriers are, however, able to pass the allele onto their offspring, who may then express the genetic trait.
A female polydactl cat with opposable thumbs. Sh Split Foot gene . A dominant gene that reduces the number of toes resulting in a "lobster-claw" appearance. This is considered an undesirable mutation. Polydactyly There are probably many genes, both dominant and recessive, that cause polydactyly in cats.
This form of CAH results from deficiency of the enzyme 17α-hydroxylase (also called CYP17A1). It accounts for less than 5% of the cases of congenital adrenal hyperplasia and is inherited in an autosomal recessive manner with a reported incidence of about 1 in 1,000,000 births.
In fact, many of the top 10 male and female cat names last year were also list-toppers for babies. For male cats, Oliver took the number one spot, followed by Leo and Charlie. And on the ladies ...
Cat genetics describes the study of inheritance as it occurs in domestic cats. In feline husbandry it can predict established traits ( phenotypes ) of the offspring of particular crosses. In medical genetics , cat models are occasionally used to discover the function of homologous human disease genes.