LymphedemaV1, Main, Exploration, bibRecord, 00F471

Ullrich‐turner syndrome associated with interstitial deletion of Xp11.4→p22.31

Identifieur interne : 00F471 ( Main/Exploration ); précédent : 00F470; suivant : 00F472

Ullrich‐turner syndrome associated with interstitial deletion of Xp11.4→p22.31

Auteurs : S. Wilson [États-Unis] ; O. Modebe [Nigeria] ; Joseph W. Towner [États-Unis] ; S. Douglas Frasier [États-Unis] ; Ming S. Lin [États-Unis] ; John M. Opitz

Source :

American Journal of Medical Genetics [ 0148-7299 ] ; 1983-03.

RBID : ISTEX:F7D842B7688C15432EF0D2956BB26BB25799CA81

Abstract

The full phenotype of the Ullrich‐Turner syndrome (UTS) is thought to be due to loss of the short arm of X. We report a 16‐year‐old girl with lack of secondary sexual development, amenorrhea, and short stature. She had thyroiditis and numerous other UTS manifestations and was found to have a non‐mosaic 46,X,del(Xp) chromosome abnormality. Breakpoints occurred at p11.4 and p22.31, with a loss of the intervening segment.

Url:

https://api.istex.fr/document/F7D842B7688C15432EF0D2956BB26BB25799CA81/fulltext/pdf

DOI: 10.1002/ajmg.1320140321

Affiliations:

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to stream Istex, to step Corpus: 007434
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Le document en format XML

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<front><div type="abstract" xml:lang="en">The full phenotype of the Ullrich‐Turner syndrome (UTS) is thought to be due to loss of the short arm of X. We report a 16‐year‐old girl with lack of secondary sexual development, amenorrhea, and short stature. She had thyroiditis and numerous other UTS manifestations and was found to have a non‐mosaic 46,X,del(Xp) chromosome abnormality. Breakpoints occurred at p11.4 and p22.31, with a loss of the intervening segment.</div>
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Ullrich‐turner syndrome associated with interstitial deletion of Xp11.4→p22.31

Ullrich‐turner syndrome associated with interstitial deletion of Xp11.4→p22.31

Source :

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

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