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Titolo:
Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1
Autore:
Zinn, AR; Tonk, VS; Chen, Z; Flejter, WL; Gardner, HA; Guerra, R; Kushner, H; Schwartz, S; Sybert, VP; Van Dyke, DL; Ross, JL;
Indirizzi:
Univ Texas, SW Med Sch, Eugene McDermott Ctr Human Growth & Dev, Dallas, TX Univ Texas Dallas TX USA 75235 Dermott Ctr Human Growth & Dev, Dallas, TX Univ Texas, SW Med Sch, Dept Internal Med, Dallas, TX 75235 USA Univ Texas Dallas TX USA 75235 h, Dept Internal Med, Dallas, TX 75235 USA So Methodist Univ, Dept Stat Sci, Dallas, TX 75275 USA So Methodist Univ Dallas TX USA 75275 Dept Stat Sci, Dallas, TX 75275 USA Texas Tech Univ, Hlth Sci Ctr, Dept Pediat, Lubbock, TX 79430 USA Texas Tech Univ Lubbock TX USA 79430 , Dept Pediat, Lubbock, TX 79430 USA Texas Tech Univ, Hlth Sci Ctr, Dept Pathol, Lubbock, TX 79430 USA Texas Tech Univ Lubbock TX USA 79430 , Dept Pathol, Lubbock, TX 79430 USA Genzyme Genet, Santa Fe, NM USA Genzyme Genet Santa Fe NM USAGenzyme Genet, Santa Fe, NM USA Univ Utah, Dept Pediat, Salt Lake City, UT USA Univ Utah Salt Lake City UT USA tah, Dept Pediat, Salt Lake City, UT USA Oshawa Gen Hosp, Oshawa, ON, Canada Oshawa Gen Hosp Oshawa ON CanadaOshawa Gen Hosp, Oshawa, ON, Canada Univ Toronto, Depb Lab Med & Pathobiol, Toronto, ON, Canada Univ Toronto Toronto ON Canada Lab Med & Pathobiol, Toronto, ON, Canada Thomas Jefferson Univ, Dept Pediat, Philadelphia, PA 19107 USA Thomas Jefferson Univ Philadelphia PA USA 19107 hiladelphia, PA 19107 USA Case Western Reserve Univ, Dept Genet, Cleveland, OH 44106 USA Case Western Reserve Univ Cleveland OH USA 44106 Cleveland, OH 44106 USA Case Western Reserve Univ, Ctr Human Genet, Cleveland, OH 44106 USA Case Western Reserve Univ Cleveland OH USA 44106 Cleveland, OH 44106 USA Case Western Reserve Univ, Univ Hosp Cleveland, Cleveland, OH 44106 USA Case Western Reserve Univ Cleveland OH USA 44106 Cleveland, OH 44106 USA Univ Washington, Dept Genet, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 n, Dept Genet, Seattle, WA 98195 USA Univ Washington, Dept Dermatol, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 Dept Dermatol, Seattle, WA 98195 USA Henry Ford Hosp, Dept Med Genet, Detroit, MI 48202 USA Henry Ford Hosp Detroit MI USA 48202 ept Med Genet, Detroit, MI 48202 USA
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 6, volume: 63, anno: 1998,
pagine: 1757 - 1766
SICI:
0002-9297(199812)63:6<1757:EFATSL>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
HUMAN Y-CHROMOSOME; X-CHROMOSOME; SHORT STATURE; SHORT ARM; CYSTIC HYGROMA; GROWTH GENE(S); SEX-CHROMOSOME; DOWN-SYNDROME; DELETIONS; PHENOTYPE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
44
Recensione:
Indirizzi per estratti:
Indirizzo: Zinn, AR Univ Texas, SW Med Sch, Eugene McDermott Ctr Human Growth & Dev, 6000 Harry Univ Texas 6000 Harry Hines Blvd Dallas TX USA 75235 , 6000 Harry
Citazione:
A.R. Zinn et al., "Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1", AM J HU GEN, 63(6), 1998, pp. 1757-1766

Abstract

Turner syndrome is the complex human phenotype associated with complete orpartial monosomy X. Principle features of Turner syndrome include short stature, ovarian failure, and a variety of other anatomic and physiological abnormalities, such as webbed neck, lymphedema, cardiovascular and renal anomalies, hypertension, and autoimmune thyroid disease, We studied 28 apparently nonmosaic subjects with partial deletions of Xp, in order to map loci responsible for various components of the Turner syndrome phenotype. Subjects were carefully evaluated for the presence or absence of Turner syndrome features, and their deletions were mapped by FISH with a panel of Xp markers; Using a statistical method to examine genotype/phenotype correlations, wemapped one or more Turner syndrome traits to a critical region in Xp11.2-p22.1. These traits included short stature, ovarian failure, high-arched palate, and autoimmune thyroid disease. The results are useful for genetic counseling of individuals with partial monosomy X. Study of additional subjects should refine the localization of Turner syndrome loci and provide a rational basis for exploration of candidate genes.

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Documento generato il 03/12/20 alle ore 12:54:09