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Genes And Gene Therapy Williams Syndrome
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
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
Angelman syndrome: The answer is neither- most cases are not inherited at all. http://ghr.nlm.nih.gov/condition/angelman-syndrome ...Read more
Various.: Zellweger syndrome is a genetically heterogeneous disorder and can be caused by mutation in any one of several genes involved in peroxisome biogenesis, including peroxin-1 (pex1; 602136) on chromosome 7q21, peroxin-2 (pex2; 170993) on 8q21, peroxin-3 (pex3; 603164) on 6q23-q24, peroxin-5 (pex5; 600414) on 12p13, peroxin-6 (pex6; 601498) on 6p21, peroxin-7 (pex7; 601757) on 6q22-q24, peroxin-10 (pe. ...Read more
What categories does severe combined immunodeficiency fall under? (such as single gene defect, point mutation. Chromosome abnormality, sex-linked, etc
Tourette & Aspergers: Due to the elusive genomic of both conditions, a concrete inheritance relationship has yet to be established. There is some evidence favoring a genetic link between tourette syndrome and autism. Since asperger falls in the autism spectrum, a link is suggested. Genetic counseling can help one to gain a better understanding of these conditions. ...Read moreSee 1 more doctor answer
Can comprehensive chromosome screening (CCS) in IVF screen for (1) partial trisomy, (2) unbalanced translocation, and (3) balanced translocation? Does testing parental karyotyping before CCS help?
Test for Aneuploidy: Aneuploidy is the term used to describe any embryo with either too many or too few chromosomes. It is the cause of greater than 60% of miscarriages, as well as the most likely reason that patients do not get pregnant from an IVF cycle. The purpose of CCS is to analyze, select and transfer only embryos that do not have abnormalities in their number of chromosomes. A genetic consult is needed; ...Read more
Can grandparents carry a mutation to cause Asperger syndrome in grandchildren, skipping a generation?
Not that simple: For the most part what are inherited are genes coding for (snp)single nucleotide polymorphisims-different forms of enzymes that do not digest certain proteins. It is possible to be the contributor of (at most 1/4 total)genes that might contribute to certain symptom patterns. ...Read more
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Neurodevelopmental disorder characterized by loquacious personality, abnormally sensitive hearing, supravalvular aortic stenosis, mental retardation, elfin facies, association with hypercalcemia due to abnormal sensitivity to vitamin d, idiopathic hypercalcemia of pregnancy. Due to deletion in elastin gene and probably several ...Read more
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