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Select A Chapter PART I: Fundamentals     Chapter 1     Chapter 4    ------------------------------------------------ PART II: Methods and Approaches I     Chapter 5     Chapter 7     Chapter 9     Chapter 10    ------------------------------------------------ PART III: Methods and Approaches II Chapter 11    ------------------------------------------------ PART IV: Case Studies     Chapter 22     Chapter 23     Chapter 24     Chapter 28     Chapter 29

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Part IV:
CASE STUDIES:  Using Human Genome Epidemiology Information to Improve Health

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Chapter 23 Tables

Fragile X Syndrome: Application of Gene Identification to Clinical Diagnosis and Population Screening

Dana Crawford, Stephanie L. Sherman

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Table 23-1
Population-based prevalence of the fragile X syndrome among males

Country	Target Population	No. Positive / No. tested	Estimated prevalence
			Target population %	General population (95% CI)
U.K. (Wessex) 18;35	SpEd population (ages 5-18 years), unknown etiology	20/3,738	SpEd: 0.5	1/5,530 (1/8,992-1/4,007)
U.S.A. (Atlanta, Georgia)28;34	SpEd population (ages 7-10 years), regardless of etiology	White: 4/1,572 African-American: 3/752 Total: 7/2,740	White SpEd: 0.3 African-American SpEd: 0.4 Total SpEd: 0.3	White: 1/3,717 (1/7,692-1/1,869) African-American: 1/2,545 (1/5,208-1/1,289) Total:1/3,623 (1/5,988-1/2,212)
Southwest Netherlands19	Schools and institutes for MR, unknown etiology	9/866	Mild MR: 2.0 Moderate/Severe MR: 2.4	1/6,045 (1/9,981-1/3,851)
Hellenic Population of Greece and Cyprus30	Referred clinical population of idiopathic MR	8/611	MR: 1.3	1/4,246 (1/16,440-1/1,333)
Australia (Sydney)95;96	Children with MR in SpEd	10/472	MR: 2.1 Mild MR: 0.6 Moderate/Severe MR: 5.	1/4,350a
Southern Häme, Finland97	Adult males (>16 years) registered in the Southern Häme Care Organization with MR, unknown etiology	6/344	MR: 1.7	1/4,400b
U.K. (Coventry)96;98;99	Children with MR in institutions or SpEd	6/219	MR: 2.7 Mild MR: 1.3 Moderate/Severe MR: 6.7	1/4,090a
Poland (Warsaw)100	Males in institutions or SpEd with MR	6/201	MR: 3.0	1/2,857-1/5,882c
U.K. (Wessex) 29	SpEd population (ages 5-18 years), unknown etiology	4/180	SpEd: 2.2	1/8,918d
Spain101	Children in SpEd or clinically referred with MR of unknown etiology; no known family history of MR	5/180	MR: 2.7	1/6,200-1/8,200e
Guadeloupe, French West Indies31	SpEd population, unknown etiology	11/163	SpEd: 6.7	1/2,359 (1/4,484-1/276)
U.K. (Oxfordshire)102	Children in schools for moderate to severe learning difficulties, unknown etiology	4/103	MR: 3.9	1/4,130f

Abbreviations: Special education or special schools (SpEd), mental retardation (MR).
^aTurner et al.96provided only a point estimate.
^bArvio et al.97provided only a range on the basis of past cytogenetic and DNA-based diagnoses.
^cMazurczak et al.100provided only a range, not a point estimate.
^dJacobs et al.29provided only a point estimate.
^eMillan et al.101provided a range, not a point estimate. Millan et al.101also acknowledged that persons with mild MR might have been missed, so the range could be as high as 1/5,000-1/6,800.
^fSlaney et al.102only provided a lower boundary, not a point estimate.
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Table 23-2
Prevalence of premutation among females in the general population

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