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Doctor insights on: Klinefelter's Syndrome Support Groups

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Is XXY klinefelter's syndrome related at all to marfan's syndrome?

Is XXY klinefelter's syndrome related at all to marfan's syndrome?

No: The two syndromes have some similar features, but they are different syndromes that are unrelated. Klinefelter syndrome is caused by ahaving at least one extra x chromosome in a person who has a y chromosome (normal male=46 xy, klinefelter=47xxy). Typical marfan syndrome is caused by a mutation in fbn1, coding for fibrillin-1. ...Read more

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Dr. Jeffrey Roth
312 doctors shared insights

Support Groups (Definition)

For information, resources, and support on specific diseases and conditions, see the links below. Additional local and national support groups can be found on the web, through local libraries, your health care provider, and the yellow pages ...Read more


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What's the focus of support groups for edward's syndrome?

What's the focus of support groups for edward's syndrome?

Trisomy 18 Support: Edward's syndrome is the result of a chromosome abnormality, namely trisomy 18. Support groups include resources and emotional support. Visit the trisomy 18 foundation for assistance. ...Read more

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Does the Asperger syndrome have xyy chromosome?

Does the Asperger syndrome have xyy chromosome?

Not by definition: Someone with xyy may has asperger's disorder but that is not part of the disorder itself. ...Read more

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Help docs, is goldenhar syndrome alike to down syndrome?

Help docs, is goldenhar syndrome alike to down syndrome?

No: Down's Syndrome is caused by a translocation of the 21st chromosome. The cause of Goldenhar syndrome is not exactly clear. Totally unrelated syndromes. ...Read more

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What are some mitochondrial disorder support groups in existence?

What are some mitochondrial disorder support groups in existence?

Look online: Since mitochondrial disorders are still considered rare disease entities, support groups at a local level would be very dificult to find. I suggest you go online to some of the big centers in the us who deal with the diagnosis and treatment of these disorders (ie. Children's hospital of philidelphia, cleveland clinic) and see if they have online support groups and parental geoups. ...Read more

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Does anyone know of hirschsprung disease support groups or sites?

Does anyone know of hirschsprung disease support groups or sites?

Yes: There are several. You can google hirschsprung's disease and you will be surprised. ...Read more

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Is there a paget's disease support group online?

Is there a paget's disease support group online?

Several: Try http://www.Experienceproject.Com/groups/have-pagets-disease-of-bone/99046.

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Is klinefelter's syndrome a somatic or genetic mutation?

Is klinefelter's syndrome a somatic or genetic mutation?

More than one x: It is a genetic anomaly in which a phenotypic male has more than one x chromosome, in addition to the y chromosome. The disorder is associated with poor testicular development and infertility, obesity. ...Read more

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On what chromosome is zellweger syndrome found?

On what chromosome is zellweger syndrome found?

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

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Are support group hepful for people with painful bladder syndrome?

Are support group hepful  for people with painful bladder syndrome?

YES: Try search for interstitial cystitis (ic) support group in your local area. I strongly recommend it. There many different way to deal with the symptoms. You may get one from the others just working for yourself. ...Read more

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Is klinefelter's syndrome dominent or recessive?

Is klinefelter's syndrome dominent or recessive?

Error in formation: Humans have 23 pairs of chromosomes. During the formation of the egg, each pair splits and one of each travels to the egg. At conception, the sperm brings 22 + an X or Y & the new embryo now has 23 pairs (two of each). In Kleinfelter, the egg retains 2 X chromosomes instead of 1 & the sperm brings a Y.The fetus then has 23 pairs + the extra X. This is an error in formation, not an inherited trait ...Read more

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Is kabuki syndrome genetic?

Is kabuki syndrome genetic?

Kabuki syndrome: is a genetically inherited disorder. Here is a link for more information, resources and support: http://ghr.nlm.nih.gov/condition/kabuki-syndrome ...Read more

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What kind of support is there for families whose infants have down syndrome?

What kind of support is there for families whose infants have down syndrome?

Many support groups: Internet resources for parents of children with down syndrome include the national association for down syndrome, at www.Nads.Org, a social networking site for parents of down syndrome children at www.Downsyndrome.Com, and sids network, a world of information and support, found at http://sids-network.Org. These groups have local chapters also. March of dimes is another place to seek support. ...Read more

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Is treacher collins syndrome a mitochondrial disorder?

Is treacher collins syndrome a mitochondrial disorder?

No: Treacher collins syndrome is an autosomal dominant mutation of a gene that codes for a nucleolar phosphoprotein.Researchers cite chromasome 5 as the predominant location for this defect.About 60% of cases are thought to represent new mutations. ...Read more