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McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin and endocrine systems. It is a mosaic disease arising from somatic activating mutations in GNAS, which encodes the alpha-subunit of the G s heterotrimeric G protein.
The age of diagnosis varies depending on manifestations of disease prompting reason for cytogenetic testing. Many patients are diagnosed prenatally due to fetal factors (increased nuchal fold, or abnormal levels of serum ), maternal age or abnormal ultrasounds, while others will be diagnosed postnatal due to external genital malformation. [ 2 ]
Mosaic loss of chromosome Y (mLOY) also known as loss of chromosome Y (LOY) occurs to many men in some cells due to aging. Instead of the expected 46,XY karyotype , the affected cells have a 45,X karyotype due to the loss of the Y chromosome .
[5] [17] Likewise, a loss of the Y chromosome can result in XY/X mosaic males. [18] An example of this is one of the milder forms of Klinefelter syndrome, called 46,XY/47,XXY mosaic wherein some of the patient's cells contain XY chromosomes, and some contain XXY chromosomes. The 46/47 annotation indicates that the XY cells have the normal ...
Instead, it found that people who developed Alzheimer's were also more likely to have goten the virus. Clifford Segil, DO , a neurologist at Providence Saint John’s Health Center in Santa Monica ...
Hypocaust under the floor in a Roman villa in Vieux-la-Romaine, near Caen, France. A hypocaust (Latin: hypocaustum) is a system of central heating in a building that produces and circulates hot air below the floor of a room, and may also warm the walls with a series of pipes through which the hot air passes.
Information about HIV was removed from the Centers for Disease Control and Prevention website. Late Friday, census.gov appeared to be down. Earlier in the afternoon, links to U.S. Census data sets ...
Stargardt disease is an inherited genetic condition. Affecting one in 10,000 people, it occurs when fatty material builds up on the macula, the part of the retina needed for central vision.