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  • Deletion of the long arm of chromosome X with mental retardation and a variable phenotype. Interstitial deletions may be associated with Hunter syndrome (mental retardation, characteristic facies, and brachyphalangy), myotubular myopathy (floppy infants with centronuclear myopathy, characteristic facies, recurrent respiratory infections, and slender fingers), and ovarian failure. Fragile X phenotype (macroorchidism, high-pitched voice, narrow face, long jaw, large ears, prominent forehead, high palate, and joint laxity) may occur in distal Xq deletions; amenorrhea in Xq11, Xq12-qter, Xq13, Xq21-qter, Xq22-24-qter deletions; oligomenorrhea in Xq13 and Xq21-qter; short stature and streak gonads in Xq22-24-qter; and premature menopause in Xq25-26-qter
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