Glossary
and 1 comments in the glossary of Trisomy 18 Support
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Malrotation : The improper rotation of a bodily part and especially of the intestines, "malrotation of the intestines". + Associated link: http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malrotation
Autosome : A chromosome other than a sex chromosome -- called also "nonsex chromosome".
Turner's syndrome : A genetically determined condition that is typically associated with the presence of only one complete X chromosome and no Y chromosome and with characteristics including a female phenotype, underdeveloped and usually infertile ovaries, absence of menstrual onset, short stature, excess skin about the neck, cubitus valgus, aortic coarctation, and a low hairline on the back of the neck.
Turner, Henry Hubert (1892-1970), American endocrinologist. Turner practiced internal medicine privately and served as a consulting endocrinologist and chief of a metabolic clinic at a university hospital in Oklahoma. He described Turner's syndrome in 1938.
Genotype : All or part of the genetic constitution of an individual or group, meaning the actual genetic makeup of an individual. As compared to the "phenotype" which is the physical representation of a person as a result of their genotype.
+ Associated link: http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=genotype
FISH Test : Fluorescence In Situ Hybridization (FISH)
FISH provides researchers with a way to visualize and map the genetic material in an individual's cells, including specifc genes or portions of genes. This is important for understanding a variety of chromosomal abnormalities and other genetic mutations. Unlike most other techniques used to study chromosomes, FISH does not have to be performed on cells that are actively dividing. This makes it a very versatile procedure. Typically offered as a preliminary result of an amniocentesis, FISH results usually are returned in a matter of days whereas the complete amnio results to compliment the FISH would be returned in about two weeks (on average).
+ Associated link: http://www.genome.gov/10000206
Holoprosencephaly : Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects. In most cases of holoprosencephaly, the malformations are so severe that babies die before birth. In less severe cases, babies are born with normal or near-normal brain development and facial deformities that may affect the eyes, nose, and upper lip. For more complete information, please follow the link below.
+ Associated link: http://www.ninds.nih.gov/health_and_medical/disorders/holoprosencephaly.htm
Hydrops : Distension of a hollow organ with fluid (hydrops of the gallbladder), also called edema.
+ Associated link: http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hydrops
Edwards Syndrome : Edwards Syndrome (Trisomy 18) is a chromosomal abnormality where there is an extra chromosome present in every cell of the body. This is an example of where “the more the merrier” is not true. This extra chromosome means that every cell has extra information encoded into it. The extra information causes confusion in the way that the cells are formed and results in the potential malformation of all of the body systems. Just like with Down's Syndrome (Trisomy 21), there is a wide range of how this condition will play out (what the doctor's will refer to as your child's phenotype). Unfortunately because there is more information encoded on the 18th chromosome, the severity of this condition is greater than that of Down's Syndrome. Current studies show that while 1:1500 children will be diagnosed prenatally with trisomy 18, only half that number (or 1:3000) will be born alive at full term. Of those who survive to birth, only half will make it to two months of age, and only 10% will survive to their first birthday. Children who live can be an important part of their family and community, but are profoundly developmentally delayed.
+ Associated link: http://trisomy18support.org/modules/wfsection/index.php?category=3
Hydramnios : See Polydramnios
Mosaic : A person who is a "genetic mosaic" has cells in his or her body with different genetic makeup. This usually is a variation in the number of chromosomes in the body's cells. Normally, all body cells would have the same number of chromosomes (46). But in mosaicism, some cells may have 47 chromosomes (such as extra chromosome 21 or X chromosome in some, but not all cells).
+ Associated link: http://www.nlm.nih.gov/medlineplus/ency/article/001317.htm
