title: Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.
abstract: Turner syndrome is the complex human phenotype associated with complete or partial 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, we mapped 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.
authors.affiliation: Eugene McDermott Center for Human Growth, Department of Internal Medicine, University of Texas, Dallas, USA. Andrew.Zinn@email.swmed.edu
authors.forename: A R
authors.initials: AR
authors.lastname: Zinn
authors.forename: V S
authors.initials: VS
authors.lastname: Tonk
authors.forename: Z
authors.initials: Z
authors.lastname: Chen
authors.forename: W L
authors.initials: WL
authors.lastname: Flejter
authors.forename: H A
authors.initials: HA
authors.lastname: Gardner
authors.forename: R
authors.initials: R
authors.lastname: Guerra
authors.forename: H
authors.initials: H
authors.lastname: Kushner
authors.forename: S
authors.initials: S
authors.lastname: Schwartz
authors.forename: V P
authors.initials: VP
authors.lastname: Sybert
authors.forename: D L
authors.initials: DL
authors.lastname: Van Dyke
authors.forename: J L
authors.initials: JL
authors.lastname: Ross
mesh_terms: D000293:Adolescent; D000328:Adult; D001323:Autoantibodies / Q000032:analysis; D001827:Body Height / Q000235:genetics; D002503:Centromere / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D015331:Cohort Studies; D019175:DNA Methylation; D004303:Dosage Compensation, Genetic; D004550:Elbow / Q000002:abnormalities; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008875:Middle Aged; D010159:Palate / Q000002:abnormalities; D016649:Primary Ovarian Insufficiency / Q000235:genetics; D013959:Thyroid Diseases / Q000235:genetics / Q000276:immunology; D014424:Turner Syndrome / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D014960:X Chromosome / Q000235:genetics*
chemical_list: D001323:Autoantibodies; D005819:Genetic Markers