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Prader Willi Syndrome Genetics Birth Defects
From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more
A genetic disorder: Usually from a deletion of a gene on the chromosome 15 inherited from the father, it can also come from having both chr 15's from the mother or both acting as if they came from mother. Infants have low muscle tone & trouble gaining weight; food craving & weight gain start about 18 mos. They have congenital anomalies, intellectual disability, compulsive behavior, & medical problems due to obesity. ...Read more
Non-disjunction.: The majority of cases of the lethal patau or trisomy 13 syndrome are caused by nondisjunction (47, +13) related to advanced maternal age. Robertsonian translocations of either parent can increase the risk for that couple, although most affected embryos die in utero. ...Read moreSee 1 more doctor answer
Yes, but .....: Clinodactyly is a curve of one or more fingers, which is pretty common, especially for the pinkies, and no big deal at all. Technically it's a minor birth defect and usually not a sign of any problem. But sometimes it's one component of a rare genetic syndrome, like wahab syndrome (http://omim.Org/entry/615170) or a more common one, like down syndrome. I have a little clinodactyly myself! ...Read more
Not inherited: Patau syndrome, or trisomy 13, is not inherited, in that a baby does not "get it" from either parent. It is usually caused when the egg does not divide properly at the time of fertilization. This accident causes a baby to get an extra number 13 chromosome in every one of its cells. Trisomy 13 is rare, but a very serious condition. Most babies with it die before birth or shortly after birth. ...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
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
Yes: Yes it is a mutation in the fbn1 gene on chromosome 15. This gene is responsible for providing the instructions for making a protien called fibrillin which becomes part of microfibrils. Microfibrils are important for providing the strength and flexibility of connective tissue. Connective tissue provides strength and flexibility to bones, ligaments, muscles, blood vessels and heart values. ...Read moreSee 1 more doctor answer
Marfan is caused by : A mutation in the fibrillin gene on the long arm of chromosome 15 , 15q15-q21.3. Autisomal dominant inheritance with widely variable clinical findings. Aneuploidy is having an abnormal # of chromosomes from a genetic accident during cell reduction (meiosis). ...Read moreSee 1 more doctor answer
What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?
A genetic accident: During formation of the egg or sperm can leave out an x chromosome in either one. A fetus whose genetic make-up includes the germ cell missing a chr. X has turner syndrome. One of 8 different genetic mutations is passed on to a fetus by 1 parent or happens spontaneously to cause noonan syndrome. 2 related genetic mutations are passed on to the fetus by 1 parent to cause klippel-feil syndrome. ...Read more
1in 1000: According to the national institute of health. ...Read more
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