Turner Syndrome: An Update and Review for the Primary Pediatrician-Reference-Cited by-同舟云学术

Turner Syndrome: An Update and Review for the Primary Pediatrician

Published:2006-05 Issue:4 Volume:45 Page:301-313
ISSN:0009-9228
Container-title:Clinical Pediatrics
language:en
Short-container-title:Clin Pediatr (Phila)

Author:

Doswell Brandy H.¹,Visootsak Jeannie²,Brady April N.³,Graham John M.⁴

Affiliation:

1. Emory University School of Medicine, Atlanta, GA

2. Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA

3. Department of Human Genetics, Emory University School of Medicine, Atlanta, GA

4. Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Department of Pediatrics, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA

Abstract

Turner syndrome (TS) is among the most common of the sex chromosomal aneuploidies. It results from the absence of one sex chromosome (or part of an X chromosome) in a female, leaving only one X chromosome present in the cell. Primary care physicians should be able to recognize the presenting signs and symptoms of TS, and once the diagnosis is confirmed by a chromosome analysis, they should be able to serve as a valuable source of support for the patient and her family and understand the most current treatments available.

Publisher

SAGE Publications

Subject

Pediatrics, Perinatology and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/000992280604500402

Reference82 articles.

1. Über typische Kombinationsbilder multipler Abartungen

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3. A SEX-CHROMOSOME ANOMALY IN A CASE OF GONADAL DYSGENESIS (TURNER'S SYNDROME)

4. Down syndrome, Turner syndrome, and Klinefelter syndrome: primary care throughout the life span

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