Fragile X Syndrome

Affected Males

Mental retardation
Long, thin faces -- prominent jaw
Large, protuberant ears
Macroorchidism
Austistic behaviour

Unique X-linked Inheritance Pattern:

NEJM **325**:1738-37 (1991)
20% of males who inherit the gene are unaffected carriers 50% of heterozygous females have components of disorder 30% of females are mentally retarded 50% of obligate carriers do not express the gene No affected offspring arise as a direct result of new mutation

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Last modification: February 21, 1998