Phenotypic variability to medication management: an update on fragile X syndrome

Table 3 Clinical checklist to identify patients for molecular diagnostic testing

Clinical characteristic	Score if present
Clinical characteristic	1	2
Soft, velvety skin on the palms with a redundancy of skin on the dorsum of the hand		X
Flat feet		X
Large and prominent ears		X
Plantar crease	X
Macroorchidism (male patients after puberty)	X
Family history of intellectual disability	X
Autistic behavior	X
Total	4	6

Each of the seven high-risk clinical characteristics is given 1 or 2 points (per the checklist) if present. The maximum total score is 10 for post-pubescent boys and 9 for girls and pre-pubescent boys. Molecular diagnostic testing should be considered in patients who score six or higher. Adapted from [114]

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