Turner Syndrome: Genotype and Phenotype

Launched by EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT (NICHD) · Oct 4, 2000

Keywords

ClinConnect Summary

Turner syndrome (TS) is a sporadic disorder affecting \~ 1/2500 live female births. It is caused by the absence of all or significant parts of one sex-chromosome. Major developmental consequences include severe short stature, ovarian failure and distinctive cognitive and behavioral traits, with renal and cardiovascular defects affecting a minority. Adults with TS have excessive rates of osteoporosis, hypertension and diabetes mellitus and experience morbidity and mortality several-fold higher than the general population. Many of the problems of TS result from haplo-insufficiency for X-chrom...

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Eligibility criteria

• * INCLUSION CRITERIA - for TS Subjects:
• • Phenotypic females greater than or equal to 10 years of age
• • Evidence of X-chromosomal abnormality
• • Those with a karyotype of 45X/46XX must have at least 80% 45X lymphocytes.
• EXCLUSION CRITERIA - for TS Subjects:
• • Co-existing autosomal defects
• • Pregnancy
• INCLUSION CRITERIA - for the Parents of TS Subjects (for DNA only):
• • Biological parent of a TS subject
• • Willingness to participate
• EXCLUSION CRITERIA - for the Parents of TS Subjects (for DNA only):
• • None