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Is marfan's syndrome sex linked?
Marfan syndrome is not sex linked. It is autosomal dominant and found equally in all genders and ethnicities.
What is short spine syndrome?
Short Spine Syndrome (Brachyrachia) is a condition characterized by a short spinal column due to compression of the vertebrae
Who discovered cat eye syndrome?
Cat eye syndrome was first described in 1969 by scientists at the Johns Hopkins Hospital in Baltimore, led by Dr. Alfred Knudson. They named the syndrome after the striking feature of vertical colobomas in the eyes that resemble a cat's eye.
How Was Marfan Syndrome Discovered?
Marfan syndrome was first described by Antoine Marfan, a French pediatrician, in 1896. He observed a unique set of physical features in a 5-year-old girl, which led him to identify the syndrome as a distinct medical condition. Over time, further research and advancements in genetics have helped to better understand the underlying causes and manifestations of Marfan syndrome.
Can animals such as dogs and cats get Down syndrome?
No that is only in humans I'm not sure animals can actually have down syndrome, but they can always have birth disorders. Although there is also one recorded case of a cat believed to have down syndrome. Heres the link if your Interested- http://www.itchmo.com/taking-care-of-a-cat-diagnosed-with-down-syndrome-1523 Alex and Amelia 'Down's Syndrome' is technically when there is three 21 chromosomes in a human. Therefore, no other animals can have 'Down's Syndrome' specifically. Other animals can, however, have three of other chromosomes and have a similar physical defect, although they rarely are able to survive in the wild.
What are three special interest groups that focus on barth syndrome?
There appears to be only one special interest group that has its focus on Barth syndrome--Barth Syndrome Foundation, Inc. The website for this non-profit organization is: www.barthsyndrome.org . There are several international affiliates of the BSF: The Barth Syndrome Trust (UK & Europe), Barth Syndrome Foundation of Canada, and Barth Trust of South Africa. Sincerely, Matt Toth
How many people have Barth Syndrome in the US?
People, mostly males, has barth syndrome. Barth Syndrome affected 200,000 male infants.
What does Barth syndrome mean?
It is a genetically-linked cardiac disease
How do you get barth syndrome?
Barth's Syndrome is not something you get from a virus or a bacteria. It is genetic, on the X chromozome. It means that a women is mostly only a carrier, and when a carrier woman marries a amn, 50% of their boys will have Barth's Syndrome and 50% of their girls will be carriers. All the other boys and girls will be healthy. Have good health, harhanegev@gmail.com
What is the birth name of Mark Barth?
Mark Barth's birth name is Mark Lee Barth.
The mitochondria do not function properly in people with Barth Syndrome because the mutated gene alerts or inhabits the production of what biomolecule?
The mutated gene in Barth syndrome is tafazzin, and when this gene is defective it causes a loss or change in the biomolecule called cardiolipin. Cardiolipin is a phospholipid found in the mitochondria. Matthew J. Toth Science Director Barth Syndrome Foundation, Inc.
What is the birth name of Marleen Barth?
Marleen Barth's birth name is Magdalena Antoinette Maria Barth.
What is the birth name of Eddie Barth?
Eddie Barth's birth name is Edward Bartholetti.
Who does Barth syndrome affect?
This syndrome affects male children, and is usually diagnosed at birth or within the first few months of life
What gene is affected by Barth syndrome?
Barth syndrome occurs when a person is born with a mutated, or abnormal, TAZ1 (or G4.5) gene. This abnormal gene is located on the X chromosome, which is a sex-determining chromosome. Males have one X and one Y chromosome, while females have two X chromosomes.
What are barth syndrome's special interested groups?
if you want people to come on this website to ask questions, then answer them with real answers!!!!!
What is the birth name of Ruth Henning?
Ruth Henning's birth name is Ruth Margaret Barth.
