Human Chromosomes
Identifieur interne : 001C59 ( Pmc/Corpus ); précédent : 001C58; suivant : 001C60Human Chromosomes
Auteurs : Keith L. Moore ; Jean C. HaySource :
- Canadian Medical Association Journal [ 0008-4409 ] ; 1963.
Abstract
This presentation is designed to show the diagnostic implications of chromosomal abnormalities, and how in some cases chromosome analysis may be helpful in prognosis and counselling. Most males with Klinefelter's syndrome have chromatinpositive nuclei and an abnormal sex chromosome complex (usually XXY). In Turner's syndrome many such females have chromatin-negative nuclei and a deficient sex chromosome complex (usually XO). Multiple-X females have unusual chromatin patterns (two or three masses of sex chromatin) and abnormal sex chromosome complexes (XXX, XXXX, XO/XXX, etc.). One of the parents of a translocation mongol may carry a translocation chromosome and pass it to future children. Cytogenetic data are therefore essential for genetic counselling. Mosaic and deletion mongols may show incomplete manifestations of mongolism, which make diagnosis difficult; chromosome analysis is helpful in diagnosis, and in prognosis concerning mental development. Abnormal chromosome numbers result from non-disjunction, usually during gametogenesis. The error may occur, however, during cleavage, producing cells with different chromosome complements (mosaicism). Visible structural abnormalities of chromosomes result from deletions or translocations of chromosome fragments.
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PubMed: 20327547
PubMed Central: 1921289
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PMC:1921289Le document en format XML
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<author><name sortKey="Moore, Keith L" sort="Moore, Keith L" uniqKey="Moore K" first="Keith L." last="Moore">Keith L. Moore</name>
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<author><name sortKey="Hay, Jean C" sort="Hay, Jean C" uniqKey="Hay J" first="Jean C." last="Hay">Jean C. Hay</name>
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<series><title level="j">Canadian Medical Association Journal</title>
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<front><div type="abstract" xml:lang="en"><p>This presentation is designed to show the diagnostic implications of chromosomal abnormalities, and how in some cases chromosome analysis may be helpful in prognosis and counselling. Most males with Klinefelter's syndrome have chromatinpositive nuclei and an abnormal sex chromosome complex (usually XXY). In Turner's syndrome many such females have chromatin-negative nuclei and a deficient sex chromosome complex (usually XO). Multiple-X females have unusual chromatin patterns (two or three masses of sex chromatin) and abnormal sex chromosome complexes (XXX, XXXX, XO/XXX, etc.). One of the parents of a translocation mongol may carry a translocation chromosome and pass it to future children. Cytogenetic data are therefore essential for genetic counselling. Mosaic and deletion mongols may show incomplete manifestations of mongolism, which make diagnosis difficult; chromosome analysis is helpful in diagnosis, and in prognosis concerning mental development. Abnormal chromosome numbers result from non-disjunction, usually during gametogenesis. The error may occur, however, during cleavage, producing cells with different chromosome complements (mosaicism). Visible structural abnormalities of chromosomes result from deletions or translocations of chromosome fragments.</p>
<sec sec-type="scanned-figures"><title>Images</title>
<fig id="F1"><label>Fig. 7</label>
<graphic xlink:href="canmedaj00997-0036-a" xlink:role="1075"></graphic>
</fig>
</sec>
</div>
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<pmc article-type="review-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Can Med Assoc J</journal-id>
<journal-title>Canadian Medical Association Journal</journal-title>
<issn pub-type="ppub">0008-4409</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">20327547</article-id>
<article-id pub-id-type="pmc">1921289</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Review Article</subject>
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</article-categories>
<title-group><article-title>Human Chromosomes</article-title>
<subtitle>II. Preparation, Analysis and Diagnostic Implications of Abnormalities</subtitle>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Moore</surname>
<given-names>Keith L.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Hay</surname>
<given-names>Jean C.</given-names>
</name>
</contrib>
</contrib-group>
<pub-date pub-type="ppub"><day>25</day>
<month>05</month>
<year>1963</year>
</pub-date>
<volume>88</volume>
<issue>21</issue>
<fpage>1071</fpage>
<lpage>1079</lpage>
<abstract><p>This presentation is designed to show the diagnostic implications of chromosomal abnormalities, and how in some cases chromosome analysis may be helpful in prognosis and counselling. Most males with Klinefelter's syndrome have chromatinpositive nuclei and an abnormal sex chromosome complex (usually XXY). In Turner's syndrome many such females have chromatin-negative nuclei and a deficient sex chromosome complex (usually XO). Multiple-X females have unusual chromatin patterns (two or three masses of sex chromatin) and abnormal sex chromosome complexes (XXX, XXXX, XO/XXX, etc.). One of the parents of a translocation mongol may carry a translocation chromosome and pass it to future children. Cytogenetic data are therefore essential for genetic counselling. Mosaic and deletion mongols may show incomplete manifestations of mongolism, which make diagnosis difficult; chromosome analysis is helpful in diagnosis, and in prognosis concerning mental development. Abnormal chromosome numbers result from non-disjunction, usually during gametogenesis. The error may occur, however, during cleavage, producing cells with different chromosome complements (mosaicism). Visible structural abnormalities of chromosomes result from deletions or translocations of chromosome fragments.</p>
<sec sec-type="scanned-figures"><title>Images</title>
<fig id="F1"><label>Fig. 7</label>
<graphic xlink:href="canmedaj00997-0036-a" xlink:role="1075"></graphic>
</fig>
</sec>
</abstract>
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