Table 1

Clinical scoring for fragile X features

	Score
Family history of mental retardation^1-150
Affected sib, affected maternal uncle, aunt, nephew, niece, or first cousin	2
For any other affected relative (compatible with X linked inheritance)	1
Face^1-150
Long jaw and high, wide forehead	2
Only one of these findings	1
Ears^1-150
Large (by measurement) and protruding from side of head	2
Large only	1
Joints
Hyperextension of metacarpophalangeal joint digit V (>90°) and I	2
Only hyperextension of metacarpophalangeal joint digit V	1
Skin
Soft and velvety on the palms with redundancy of skin on the dorsum of hand	2
Only soft and velvety on palms	1
Testes^1-151
Both testes >30 ml	2
One testis >30 ml	1
Personality^1-150
Initial shyness and lack of eye contact followed by friendliness and verbosity with echolalic speech	2
Some of these characteristics	1
Total