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Is Lymphangioma Associated With Downs Syndrome Or Any Other Genetic Disorders
Yes and No: About 70% 0f lymphangiomas are seen associatted with genetic syndromes. It is frequently seen in patients with turner syndrome (x0) & occasionally seen in down syndrome (trisomy 21) and others. It also occurs sporadicly in otherwise normal kids. The largest one i ever saw was locates over the trunk and side of a normal kid. ...Read moreSee 1 more doctor answer
A genetic disease is a disease that is caused by a defect in the genetic (dna) material in a gene(s). It can be inherited and mosy pose a risk to other family members and/or to future children. For many genetic diseases there are molecular tests that allow detection of a change(s) called mutations, we can also detect deltions or other changes to the gene's dna that can also result ...Read more
Yes: While WPW syndrome is genetic, not every patient behaves or is treated the same way. A good percentage of the WPW population will not need any treatment as they do not have fast heart rates (arrhythmias). At the other end of the spectrum however, live patients with WPW who may need ablation or possibly an icd. The proper course of action is determined by an electrophysiologist usually. ...Read moreSee 1 more doctor answer
Genetic condition: Caused by gene changes in FGFR2 mutations which produce fibroblast growth factor receptors which control growth. Characterized by early fusion of the sutures in the skull (soft spot) and webbed hands or toes. Good reference: http://ghr.nlm.nih.gov/condition/apert-syndrome ...Read more
Is rare.: This is a rare genetic disorder due to the deletion of chromosome 5p. It is called this due to the so called "cat cry" that these infants make. It occurs in 1 in 50000 live births, throughout all ethnicities, and is seen in females more than males by a 4:3 ratio. ...Read more
Can karotyping detect 22q11.2 deletion syndrome? What is the standard pediatricians use if they are testing for genetic disorders?
No: Usually for a 22q11.2 syndromes, a diagnostic technique called FISH is performed. There are numerous ways to detect genetic issues and the diagnostic modality will depend on what one is looking for. This may include simple karyotyoing to more sophisticated gene sequencing. A genetic counselor may be able to help you. ...Read more
Unknown: Some are rarer than one in 100,000. Is continually finding new genetic disordersand we may have no clue with regard to how frequent they are. There are dozens of severe multiple malformation syndromes which are striking but none of the worlds geneticists have a clue with regard to what causes them.how do you estimate a single case in the world's medical literature? ...Read more
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
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