Cytogenetic studies of a male with sporadic intestinal lymphangiectasia: 45,X/46,XY mosaicism with pseudo‐ and hyperdiploid subpopulations in cultured tissues
Identifieur interne : 00FD93 ( Main/Exploration ); précédent : 00FD92; suivant : 00FD94Cytogenetic studies of a male with sporadic intestinal lymphangiectasia: 45,X/46,XY mosaicism with pseudo‐ and hyperdiploid subpopulations in cultured tissues
Auteurs : James White [États-Unis] ; Clare Crandall [États-Unis] ; Jeffrey S. Flier [États-Unis] ; Elizabeth S. Raveché [États-Unis] ; Joe-Hin Tjio [États-Unis] ; Robert L. SummittSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1979.
Abstract
45,X/46,XY mosaicism was found in peripheral blood, bone marrow, and tissue cultures of an adult male with intestinal lymphangiectasia (IL). Turner phenotype was not present; his meiotic metaphase analysis was normal, and his dermatoglyphics resembled those of his family. Ten separate tissue culture lines from three biopsies of skin and thyroid gland contained 45,X cells (14.8 to 78.3%). Autosomal aneuploidy, resulting in pseudo‐ or hyperdiploidy, was also present in 4.3 to 41.6% of the cells. A hyperdiploid clone with a 47,X,+10,+18 karyotype was found in 22.6% of cells in one line. A second hyperdiploid clone with a 48,X,+2,+18,+18 karyotype occurred in 7.6% of cells from another line containing a total of 41.6% pseudo‐ and hyperdiploid cells. Such clonal abnormalities were not typical of tissue cultures from other patients done in our laboratory. Growth of our patient's tissue cultures was subnormal, and none proliferated beyond the fourth subculture. The significance of this observation remains to be determined. Our results do not allow us to conclude whether our patient's mosaicism of somatic tissues arose during embryogenesis, or whether it originated post‐natally. The secondary immunodeficiency which occurs in IL may explain persistence of cells with unusual combinations of autosomal aneuploidy in our patient's tissues.
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DOI: 10.1002/ajmg.1320030405
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Flier</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Diabetes Branch, National Institute of Arthritis, Metabolism, and Digestive Diseases, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Raveche, Elizabeth S" sort="Raveche, Elizabeth S" uniqKey="Raveche E" first="Elizabeth S." last="Raveché">Elizabeth S. Raveché</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Section on Cytogenetics, Laboratory of Experimental Pathology, National Institute of Arthritis, Metabolism, and Digestive Diseases, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Tjio, Joe In" sort="Tjio, Joe In" uniqKey="Tjio J" first="Joe-Hin" last="Tjio">Joe-Hin Tjio</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Section on Cytogenetics, Laboratory of Experimental Pathology, National Institute of Arthritis, Metabolism, and Digestive Diseases, National Institutes of Health, Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Summitt, Robert L" sort="Summitt, Robert L" uniqKey="Summitt R" first="Robert L." last="Summitt">Robert L. Summitt</name></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">0148-7299</idno><idno type="eISSN">1096-8628</idno><imprint><biblScope unit="vol">3</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="341">341</biblScope><biblScope unit="page" to="352">352</biblScope><biblScope unit="page-count">12</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1979">1979</date></imprint><idno type="ISSN">0148-7299</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0148-7299</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">45,X/46,XY mosaicism was found in peripheral blood, bone marrow, and tissue cultures of an adult male with intestinal lymphangiectasia (IL). Turner phenotype was not present; his meiotic metaphase analysis was normal, and his dermatoglyphics resembled those of his family. Ten separate tissue culture lines from three biopsies of skin and thyroid gland contained 45,X cells (14.8 to 78.3%). Autosomal aneuploidy, resulting in pseudo‐ or hyperdiploidy, was also present in 4.3 to 41.6% of the cells. A hyperdiploid clone with a 47,X,+10,+18 karyotype was found in 22.6% of cells in one line. A second hyperdiploid clone with a 48,X,+2,+18,+18 karyotype occurred in 7.6% of cells from another line containing a total of 41.6% pseudo‐ and hyperdiploid cells. Such clonal abnormalities were not typical of tissue cultures from other patients done in our laboratory. Growth of our patient's tissue cultures was subnormal, and none proliferated beyond the fourth subculture. The significance of this observation remains to be determined. Our results do not allow us to conclude whether our patient's mosaicism of somatic tissues arose during embryogenesis, or whether it originated post‐natally. The secondary immunodeficiency which occurs in IL may explain persistence of cells with unusual combinations of autosomal aneuploidy in our patient's tissues.</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Maryland</li></region></list><tree><noCountry><name sortKey="Summitt, Robert L" sort="Summitt, Robert L" uniqKey="Summitt R" first="Robert L." last="Summitt">Robert L. Summitt</name></noCountry><country name="États-Unis"><region name="Maryland"><name sortKey="White, James" sort="White, James" uniqKey="White J" first="James" last="White">James White</name></region><name sortKey="Crandall, Clare" sort="Crandall, Clare" uniqKey="Crandall C" first="Clare" last="Crandall">Clare Crandall</name><name sortKey="Flier, Jeffrey S" sort="Flier, Jeffrey S" uniqKey="Flier J" first="Jeffrey S." last="Flier">Jeffrey S. Flier</name><name sortKey="Raveche, Elizabeth S" sort="Raveche, Elizabeth S" uniqKey="Raveche E" first="Elizabeth S." last="Raveché">Elizabeth S. Raveché</name><name sortKey="Tjio, Joe In" sort="Tjio, Joe In" uniqKey="Tjio J" first="Joe-Hin" last="Tjio">Joe-Hin Tjio</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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