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Previous Volume 351:1227-1238 September 16, 2004 Number 12 Next

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Turner's syndrome, a disorder in females characterized by the absence of all or part of a normal second sex chromosome, leads to a constellation of physical findings that often includes congenital lymphedema, short stature, and gonadal dysgenesis.^1,2,3 Turner's syndrome occurs in 1 in 2500 to 1 in 3000 live-born girls. Approximately half have monosomy X (45,X), and 5 to 10 percent have a duplication (isochromosome) of the long arm of one X (46,X,i(Xq)). Most of the rest have mosaicism for 45,X, with one or more additional cell lineages (Table 1).

View this table: [in this window] [in a new window]   Table 1. Major Clinical Features of Turner's Syndrome.

 
In the . . . [Full Text of this Article]

Diagnosis

Management

Growth

Developmental and Behavioral Concerns

Cardiovascular Concerns

Endocrine Concerns

Ophthalmologic and Otologic Concerns

Gastrointestinal Manifestations

Renal Manifestations

Musculoskeletal Characteristics

Dermatologic Concerns

Neoplasia

Life Expectancy

Summary

Source Information

From the Division of Medical Genetics, Departments of Medicine (V.P.S.) and Psychiatry and Behavioral Sciences (E.M.), University of Washington School of Medicine; and Group Health Permanente Seattle (V.P.S.); and Children's Hospital and Regional Medical Center (E.M.) — all in Seattle.

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