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August 1966

Eye Signs in Turner's Syndrome

Author Affiliations

From the Howe Laboratory of Ophthalmology, Harvard Medical School (Dr. Lessell), and Massachusetts General Hospital, Department of Medicine (Dr. Forbes), Boston.

Arch Ophthalmol. 1966;76(2):211-213. doi:10.1001/archopht.1966.03850010213011

Chromosome analyses have revealed consistent abnormalities in several congenital disorders. Two of these, mongolism (21 trisomy)1 and 13-15 trisomy2 are of established ophthalmic importance. This communication reviews the opthalmic facets of a third chromosomal aberration, Turner's syndrome.

Turner's Syndrome  Approximately one in every 5,000 phenotypic females possesses one X chromosome instead of two and a total of 45 chromosomes instead of 463 (Figure). The Barr body of somatic cells, which is dependent upon the presence of at least two X chromosomes, is absent in the cells of XO individuals. Generally, such persons present the clinical picture described by Turner in 1938.4 Ovarian dysgenesis, primary amenorrhea, undeveloped breasts, infantile genitalia, scanty pubic hair, short stature, webbed neck, shield chest, and cubitus valgus dominate the picture. Coarctation of the aorta, multiple pigmented nevi, recurrent aural infections, and congenital lymphedema occur often. Recently, diabetes and myxedema have been frequently

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