Doctor insights on:
Angelman Syndrome Ultrasound Markers
ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read moreSee 1 more doctor answer
An ultraound, also known as a sonogram, is a painless and relatively inexpensive imaging test that utilizes sound waves instead of ionizing radiation. There are no side effects. Ultrasound can give us two-dimensional, and in some applications three-dimensional, images of structures and organs in virtually any part of the body. In addition to diagnostic uses, such as evaluating abnormalities in the abdomen, pelvis, and breast, ultrasounds are commonly used to guide needle and catheter placement in a variety of surgical ...Read more
1in 1000: According to the national institute of health. ...Read more
Yes: Jacob's xyy is badly misunderstood. It makes a man taller, more at risk for acne, and he may speak later. The rubbish about "natural criminal" is fully discredited; if he's a bit more aggressive -- hey, in our world i think that's a good thing. As an internet physician with an interest in xyy, i've saved the lives of over a dozen unborn children; many thank-you's and no one says they chose wrong. ...Read more
See below: The current diagnostic criteria to detect cyst in the kidney is by ultrasound, however this is not a 100% accurate way as very small cysts can be missed. Ct scan can detect cysts which are smaller like 1 mm.There are no diagnostic criteria dveloped for ct scan yet. In case a young kidney donor wants to donote, but make sure he/she doesnot have the disease, there are genetic tests available. ...Read more
Yes: Most females are born with 2 x chromosomes. Ts is a disorder resulting from missing one x chromosome or some part of it in the cells of the body. It is a disorder exclusive to females. Those with ts are born with it. Manifestations vary depending on the genetics. Small stature is one feature most girls have in common with each other. ...Read more
2 early MC, heartbeat seen 2nd case, no live birth, turner's synd in fetus 2nd case, karyotyping & immunological tests normal. Way fwd? More tests?
Maternal fetal medicine: specialist is what you need with your high risk pregnancies, if you don't have one available in your area please seek advice in a teaching hospital ...Read more
Is there any doctor with experience of seeing patients with Cowden's syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN hamartoma tumour syndrome?
Cowden Syndrome: http://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome http://ghr.nlm.nih.gov/condition/cowden-syndrome http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/8 Those are fairly rare disease Perhaps the above links could assist you. Seems like University of Iowa does have expertise. ...Read more
Separate study: If you are having the one study done it is simple enough to arrange for the other study at the same time. They are separate tests and often done at a separate lab. ...Read more
No: The two syndromes have some similar features, but they are different syndromes that are unrelated. Klinefelter syndrome is caused by ahaving at least one extra x chromosome in a person who has a y chromosome (normal male=46 xy, klinefelter=47xxy). Typical marfan syndrome is caused by a mutation in fbn1, coding for fibrillin-1. ...Read moreSee 1 more doctor answer
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