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Mosaic Turner's Syndrome With Unusual Manifestations
Kang-Jey Ho, MD;
S. H. Chang, MD
Evanston, Ill
JAMA. 1970;213(10):1688-1689.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings. |
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To the Editor.—
Mosaic variants of Turner's syndrome have been reported to occur in about 20% of the cases and they show wide variations in their phenotypes.1-4 This report represents a case of Turner's syndrome with mosaic chromosomal abnormalities and unusual manifestations such as normal ovaries, multiple cardiac anomalies, and partial situs inversus. To our knowledge, the latter two manifestations have not been reported previously.
Report of a Case.—
An infant weighing 2,500 gm was born at 36 weeks gastation on Dec 19, 1969, to a 31-year-old gravida 7, para 2, white mother. Bradycardia (40 to 60 beats per minute) of the baby had been noted in prenatal examinations. Moderate cyanosis, hepatosplenomegaly, and a grade 4/6 systolic murmur were present at birth. The Apgar score was 5. The baby had low-set ears, a low hair line, a short and webbed neck, a shield chest with widely spaced nipples, and
. . . [Full Text PDF of this Article]
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