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Variant of a syndrome vs Syndrome

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  1. Feb 20, 2017 #1
    Individuals with 48, XXXY or 49,XXXXY are called variants of Klinefelter Syndrome by P.J.Russell,2010 (i Genetics).

    But I read a paper published in 2011 titled:
    48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.

    My question is why the physiological condition of 48,XXXY/ 49,XXXXY individuals considered syndromes and variants of Klinefelter syndrome at the same time?

    Being a variant of Klinefelter syndrome must mean that it has symptoms similar to that of Klinefelter Synderome (actually a level higher in case of severeity) but again why is it called 48, XXXY Syndrome. To be called a syndrome it must be also have distinct symptoms (I presume).

     
  2. jcsd
  3. Feb 21, 2017 #2

    jim mcnamara

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    You are now into clinical observations. I am not qualified to evaluate clinical observations. Period. But. When a patient presents with some problem, physicians assess what they see (observations, stated symptoms, answers to questions), then as needed do some tests, and most of the time come to a diagnosis. The diagnosis then determines what treatments if any are required. Physicians in that regard have to work very, very hard to realize this skill set.

    The 'what they see' part is subjective. Patients that eventually prove to have the same diagnosis can be observed to have lots of very different symptoms. Or said another way, different clinical assessments.

    So. I do not know what you read. But if you can get access to Thompson & Thompson 'Medical Genetics', usually in a college library, read carefully what it says on multisomy (tetrasomy and pentasomy). Those are clinical descriptions. Note carefully - They vary enormously from patient to patient. This is why diagnosis of lots of human health problems may require tests. And tests provide tremendous hindsight sometimes. And high insurance costs for patients in some countries. Insurance (and standard practices ) dictates whether a test is considered required or not.

    So, your presumption has problems. You do see why, right? There may be some defining characteristics of disease processes, but they can be hidden by other issues.

    Hmm. I read the paper. So the comments above are okay. AFAIK.

    Humans normally have a chromosome count (n) = 23. So 2(n)=46, not 47, 48 or 49. The point of the paper is that for the noted patients, multisomy conditions should warrant some very rigorous testing to differentiate them as 48XXXY or 49 XXXXY because although the base 'presentation' is very like 47 trisomy XXY, treatments are different. The results of the genetic changes are more deleterious to the patient. Stated another way, karyotype tests are expensive, and can be done in only a few clinics, and in remote areas not at all, but those and other tests need to be pursued. So that there becomes a clear mandate for more aggressive treatments and assessments as well.

    One liner: It says a change in standard practices ought to occur. This is a popularized version written a lot later, mentions proposed changes :

    https://www.nichd.nih.gov/health/topics/klinefelter/conditioninfo/Pages/symptoms.aspx
     
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