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Wolfram syndrome. Wolfram syndrome, also called DIDMOAD (d iabetes i nsipidus, d iabetes m ellitus, o ptic a trophy, and d eafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration.
3 per 100,000 per year [4] Diabetes insipidus (DI) is a condition characterized by large amounts of dilute urine and increased thirst. [1] The amount of urine produced can be nearly 20 liters per day. [1] Reduction of fluid has little effect on the concentration of the urine. [1] Complications may include dehydration or seizures.
Nephrogenic diabetes insipidus, recently renamed arginine vasopressin resistance (AVP-R) and previously known as renal diabetes insipidus, is a form of diabetes insipidus primarily due to pathology of the kidney. This is in contrast to central or neurogenic diabetes insipidus, which is caused by insufficient levels of vasopressin (also called ...
Central diabetes insipidus, recently renamed arginine vasopressin deficiency (AVP-D), [ 1 ] is a form of diabetes insipidus that is due to a lack of vasopressin (ADH) production in the brain. Vasopressin acts to increase the volume of blood (intravascularly), and decrease the volume of urine produced. Therefore, a lack of it causes increased ...
Trisomy 21. Down syndrome (also known by the karyotype 47,XX,+21 for females and 47,XY,+21 for males) [98] is mostly caused by a failure of the 21st chromosome to separate during egg or sperm development, known as nondisjunction. [91] As a result, a sperm or egg cell is produced with an extra copy of chromosome 21; this cell thus has 24 ...
Genetics of Down syndrome. Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy varies greatly from individual to individual, depending on the extent of the extra copy ...
She and Doyle had genetic testing done, and were told that the fetus had tested positive for trisomy 21, a type of Down syndrome, a condition in which individuals have an extra copy of a ...
Noninvasive prenatal testing (NIPT) is a method used to determine the risk for the fetus being born with certain chromosomal abnormalities, such as trisomy 21, trisomy 18 and trisomy 13. [1][2][3] This testing analyzes small DNA fragments that circulate in the blood of a pregnant woman. [4] Unlike most DNA found in the nucleus of a cell, these ...
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