Search results
Results From The WOW.Com Content Network
Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution.It can be defined as any duplication of a region of DNA that contains a gene.
CAH can occur in various forms. The clinical presentation of each form is different and depends to a large extent on the kind of the underlying 21-hydroxylase enzyme defect. [9] Classical forms appear in infancy, and nonclassical forms appear in late childhood. The presentation in patients with classical CAH can be further subdivided into two ...
In 5α-Reductase 2 deficiency, individuals are born with normal female genitalia, however, during puberty, male differentiation and spermatogenesis occurs. Partial genital undermasculinization can occur if the body has a partial resistance to androgens , or if genital development is blocked, undermasculization can also be induced by certain ...
Signs of folate deficiency anemia most of the time are subtle. [4] Anemia (macrocytic, megaloblastic anemia) can be a sign of advanced folate deficiency in adults. [1] Folate deficiency anemia may result in feeling tired, weakness, changes to the color of the skin or hair, open sores on the mouth, shortness of breath, palpitations, lightheadedness, cold hands and feet, headaches, easy bleeding ...
During puberty, an increase in the levels of male sex hormones leads to the development of some secondary sex characteristics, such as increased muscle mass, deepening of the voice, development of pubic hair, and a growth spurt. The penis and scrotum may grow larger. People with 5-alpha reductase deficiency do not develop much facial or body hair.
It shows 22 homologous autosomal chromosome pairs, both the female (XX) and male (XY) versions of the two sex chromosomes, as well as the mitochondrial genome (at bottom left). In genetics , a chromosomal rearrangement is a mutation that is a type of chromosome abnormality involving a change in the structure of the native chromosome . [ 1 ]
During nonfunctionalization, or degeneration/gene loss, one copy of the duplicated gene acquires mutations that render it inactive or silent. Non-functionalization is often the result of single gene duplications. [11] At this time, the gene has no function and is called a pseudogene. Pseudogenes can be lost over time due to genetic mutations.
XX gonadal dysgenesis is a type of female hypogonadism in which the ovaries do not function to induce puberty in a person assigned female at birth, whose karyotype is 46,XX. [1] Individuals with XX gonadal dysgenesis have normal-appearing external genitalia as well as Müllerian structures (e.g., cervix, vagina, uterus).