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fragile X syndrome
- an X-linked recessive syndrome consisting of mental retardation, a characteristic facies, and macroorchidism. DNA analysis shows abnormal trinucleotide repeats on the X chromosome near the end of its long arm, at Xq27.3. Constriction is demonstrable at this site on karyotyping after culture in folate-deficient medium. See also: Renpenning syndrome
Syn: FMR1, marker X syndrome, Martin-Bell syndrome
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Stedman’s Medical Dictionary 28th Edition, Copyright© 2006_Lippincott Williams & Wilkins. All rights reserved.
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