Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1

Andrew R. Zinn, Vijay S. Tonk, Zhong Chen, Wendy L. Flejter, H. Allen Gardner, Rudy Guerra, Harvey Kushner, Stuart Schwartz, Virginia P. Sybert, Daniel L. Van Dyke, Judith L. Ross

Research output: Contribution to journalArticlepeer-review

141 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1757-1766
Number of pages10
JournalAmerican journal of human genetics
Issue number6
StatePublished - 1998

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1'. Together they form a unique fingerprint.

Cite this