Thursday, May 21, 2009

new project...

One really interesting genetic disorder is Klinefelter's syndrome. In Klinefelter's syndrome, a guy has two X chormosomes and one Y chromosome instead of the normal XY that they are supposed to have. These poor guys have large breasts, small umm... male organs, and have a tendency to resemble girls. This is because of their defect on the germinative chromosomes, they have 3 instead of 2. There is hope for guys with Klinefelter's syndrome though, they can be prescribed testosterone to help with their male development. Pretty much everybody can get Klinefelter's syndrome.




Yet another germinative genetic disorder is Turner's syndrome. These girls are only born with one X chromosome instead of the usual two. They are generally short, and have a really hard time developing their ovaries and other female organs. Unfortunantly, doctors can't do much about this disorder except prescribing growth hormones to counter-act the height change, and in-vitro ferilization to the individuals who would like to have children.



There are some interesting autosomal disorders however, like cri du chat, a disorder where part of chromosome 5 is deleted. Individuals with cri du chat can't cry because of their deformed larnyx, all thProxy-Connection: keep-alive
Cache-Control: max-age=0


can make is a mewing sound. Children with cri du chat also have deformed faces, like low set brow-ridges and wide-spaced eyes. Cru di chat also effects the development of the children, making it hard for them to develop muscularly and speech-wise. However, cru di chat can be combatted with plastic surgeries and a variety of therapies.




Have you ever seen "The Grinch?". Well, if you have hypertrichosis, you will look
a lot like him. Hypertrichosis is a rare autosomal disorder on chromosomes 24 to 27. These individuals body hairs grow in the way that animal fur does, giving them the appearence of werewolves. There have only been a few cases of hypertrichosis, so nobody knows if a certain race is more predisposed to it than others. The only treatment for hypertrichosis is shaving or advanced hair removal treatments.



Some children "grow up to fast", but for kids with Progeria, an autosomal defect on chromosome number one, they literally start aging at 1 year old. Kids with progeria (they normally don't live until 13) have beaked noses, wrinkly body and low body fat and bear a striking resembalence ot the elderly. They also go through arthritis and weak bones. As progeria is so rare, we still don't know who is predisposed to this mutation. Currently there is no treatment for this rare disease.



Dwarfs are not magical creatures. In fact, some babies are born with primordial dwarfism, an autosomal defect on chromosome number 23. These people never grow to above 4 foot 11, and are perfectly porportioned, just miniture. Problems with the bones, like sclerosis have been reported but were not disabling. Anybody can be born with primordial dwarfism, it is pretty rare though. Doctors have no cure for primordial dwarfism, but it is not very hazardous.



A video about the girl in the picture

Some people are born with freaky looking eyes and teeth. These people have Rieger's syndrome, another autosomal defect affecting chromosomes 4 and 13. Individuals with this rare disorder have strange cloudy looking eyes and defected teeth. As this disorder is not very seriuos, nobody has researched if anybody is predisposed to it, or if there is any cure.

1 comment:

  1. To know more about laser hair removal in gurgaon, visit http://www.skindelhi.com/permanent_hair_reduction.html.

    ReplyDelete