Trisomy 22 mosaicism syndrome and Ullrich‐Turner stigmata
Identifieur interne : 00EB05 ( Main/Exploration ); précédent : 00EB04; suivant : 00EB06Trisomy 22 mosaicism syndrome and Ullrich‐Turner stigmata
Auteurs : Bradley M. Wertelecki ; W. R. Breg [États-Unis] ; J. M. Graham Jr. [États-Unis] ; K. Iinuma ; S. M. Puck [États-Unis] ; F. R. Sergovich [Canada] ; John M. Opitz ; James F. ReynoldsSource :
- American Journal of Medical Genetics [ 0148-7299 ] ; 1986-03.
Abstract
Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich‐Turner syndrome including short stature, ptosis, webbed neck, nevi, cubitus valgus, dysplastic nails, malformed greatvessels, and abnormal ovaries. These anomalies in trisomy 22 mosaicism have not been emphasized heretofore. In each of our patients, trisomy 22 mosaicism was found only in fibroblasts. In one patient, the trisomy resulted from a paternal first meiotic nondisjunction, and in the 46,XX cells, both chromosomes 22 were of paternal origin.
Url:
DOI: 10.1002/ajmg.1320230302
Affiliations:
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Graham Jr.</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">New Hampshire</region></placeName><wicri:cityArea>Department of Maternal and Child Health, Dartmouth University Medical School, Hanover</wicri:cityArea></affiliation></author><author><name sortKey="Iinuma, K" sort="Iinuma, K" uniqKey="Iinuma K" first="K." last="Iinuma">K. Iinuma</name><affiliation><wicri:noCountry code="subField">Mobile</wicri:noCountry></affiliation></author><author><name sortKey="Puck, S M" sort="Puck, S M" uniqKey="Puck S" first="S. M." last="Puck">S. M. Puck</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Connecticut</region></placeName><wicri:cityArea>Department of Human Genetics, Yale University School of Medicine, New Haven</wicri:cityArea></affiliation></author><author><name sortKey="Sergovich, F R" sort="Sergovich, F R" uniqKey="Sergovich F" first="F. R." last="Sergovich">F. R. 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Reynolds</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">23</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="739">739</biblScope><biblScope unit="page" to="749">749</biblScope><biblScope unit="page-count">11</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>New York</pubPlace><date type="published" when="1986-03">1986-03</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">Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich‐Turner syndrome including short stature, ptosis, webbed neck, nevi, cubitus valgus, dysplastic nails, malformed greatvessels, and abnormal ovaries. These anomalies in trisomy 22 mosaicism have not been emphasized heretofore. In each of our patients, trisomy 22 mosaicism was found only in fibroblasts. In one patient, the trisomy resulted from a paternal first meiotic nondisjunction, and in the 46,XX cells, both chromosomes 22 were of paternal origin.</div></front></TEI><affiliations><list><country><li>Canada</li><li>États-Unis</li></country><region><li>Connecticut</li><li>New Hampshire</li></region></list><tree><noCountry><name sortKey="Iinuma, K" sort="Iinuma, K" uniqKey="Iinuma K" first="K." last="Iinuma">K. Iinuma</name><name sortKey="Opitz, John M" sort="Opitz, John M" uniqKey="Opitz J" first="John M." last="Opitz">John M. Opitz</name><name sortKey="Reynolds, James F" sort="Reynolds, James F" uniqKey="Reynolds J" first="James F." last="Reynolds">James F. Reynolds</name><name sortKey="Wertelecki, Bradley M" sort="Wertelecki, Bradley M" uniqKey="Wertelecki B" first="Bradley M." last="Wertelecki">Bradley M. Wertelecki</name></noCountry><country name="États-Unis"><region name="Connecticut"><name sortKey="Breg, W R" sort="Breg, W R" uniqKey="Breg W" first="W. R." last="Breg">W. R. Breg</name></region><name sortKey="Graham Jr, J M" sort="Graham Jr, J M" uniqKey="Graham Jr J" first="J. M." last="Graham Jr.">J. M. Graham Jr.</name><name sortKey="Puck, S M" sort="Puck, S M" uniqKey="Puck S" first="S. M." last="Puck">S. M. Puck</name></country><country name="Canada"><noRegion><name sortKey="Sergovich, F R" sort="Sergovich, F R" uniqKey="Sergovich F" first="F. R." last="Sergovich">F. R. Sergovich</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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