Discussion- Testicular feminization syndrome also known as Androgen Insensitivity Syndrome, is an X-linked recessive disorder of sexual differentiation. Baby born at birth is genetically male with 46 XY but phenotypically present as female. At puberty they attain secondary sexual characteristics with cryptorchidism. It is due to mutation in AR gene present on X-chromosome which is unresponsive to androgen stimulation leading to failure masculinization of external…
- caused by a MECP2 mutation. This gene is found on a person’s X chromosome…
Since the pattern seems to be the same for males and females, the inheritance is probably autosomal (the gene is not on a sex chromosome).…
According to the pedigree above this would be a recessive trait. The reason this is a recessive trait is because no family member at the beginning of the pedigree was affected. Also no family members in the third generation of the pedigree were affected as well. If this were a dominant trait I see it affecting more family members in the earlier stages of the pedigree.…
Mostly sporadic; INHERITED cases w/ Autonomic - dominant, Autonomic - recessive, and X - linked transmission have been reported.…
This means that males have a higher chance of getting the disorder as they only have one x chromosome. Due to this, females can carry DMD over many generations without having someone with it. It can also be caused by a random mutation as this is the case with Vivek.…
In the pedigree diagram I have analysed each person who has children with the disorder to determine that their mother is the carrier (as it is a sex [X carried] linked disorder) hence I have determine each person's genotype below:…
sporadic new mutation, which happens at conception. Therefore, as mentioned above, the diagnosis must be made…
3. Colorblindness primarily affects males. The genes for red and green cones are on the X chromosome and males have only one copy of this chromosome. Females, on the other hand, have a second X chromosome that serves as a backup if something goes wrong with the first. About one man in ten is colorblind.…
As stated before this disorder has genetic origins as it is transmitted by parents to the children; that’s why it is called X-linked Adrenoleukodystrophy or X-ALD. It only affects males while females are carriers with the chance of develop a mild form of this disorder. As a neurological condition, we could say that…
will occur if the mutation is on the maternally inheritetd chromosome 15. [See picture to the left] This accounts…
b. How is it caused on a genetic level? Be specific about the chromosome #, genetic mutation, dominant or recessive, and chance of inheriting the disorder.…
GENES HAS THE DISEASE . A PERSON THAT CARRIES ONE OF THE GENES DOES NOT HAVE THE…
MD is caused by gene mutations that are particular to each form of the disease. It is an X-linked disease, meaning mothers are the carriers of the disease.…
Some people may not even be aware that their perception of color is different from normal. It allow you to see colors but the shade or match is different that normal vision. It is like a mutation of the original color. There are three forms of Anomalous trichromacy. Protanomaly, Deuteranomaly, and Tritanomaly. When you see colors your eyes are examining wavelengths of radiation. Depending on what form of Anomalous trichromacy you have different parts of the wavelengths are affected. One of the three affects the long-wavelength and mutates shades of red. The other affects the medium-wavelength and mutates shades of green. The last affects short-wavelengths and mutates shades of…