Prevalence of fragile X syndrome in males and females in Indonesia

Table 1 Fragile X mental retardation 1 gene analysis of index fragile X syndrome subjects

Patient	Sex	FMR1 gene analysis
Family1/III:3	Male	Full mutation
Family 2/III:2	Male	Mosaic premutation/full mutation
Family 3/III:2	Female	Full mutation
Family 3/III:9	Female	Full mutation
Family 4/IV:3	Male	Full mutation
Family 5/III:2	Male	Mosaic premutation/ full mutation
Family 6/III:1	Male	Full mutation
Family 7/III:2	Female	Full mutation
Family 7/III:3	Female	Full mutation

FMR1: Fragile X mental retardation 1.

Table 2 X chromosome inactivation pattern in all full mutation females

Pedigree	XCI	Clinical features
Family 3/III:2	87/13 (non random)1	Affected
Family 3/III:9	96/4 (non random)1	Affected
Family 7/III:2	93/7 (non random)1	Affected
Family 7/III:3	82/18 (non random)1	Affected
Family 1/III:6	75/25 (random)	Affected (mild)
Family 4/IV:1	74/26 (random)	Affected (mild)
Family 3/III:6	60/40 (random)	Not affected
Family 4/III:3	84/16 (non random)2	Not affected
Family 5/II:2	67/33 (random)	Not affected

¹The normal allele is inactive by X chromosome inactivation (XCI) and the expanded allele is active but methylated because of the expansion;

²the normal allele is active and the expanded allele is not active.

Table 3 Clinical features of male and female patients with fragile X syndrome

	Male							Female
	Fam 1/III:3	Fam 2/III:2	Fam 4/IV:3	Fam 5/III:2	Fam 6/III:1	Fam 4/IV:2	%	Fam 3/III:2	Fam 3/III:9	Fam 7/III:2	Fam 7/III:3	Fam 4/IV:1	Fam 1/III:6	%
Intellectual disability level	2	1	2	2	1	2		2	2	3	2	1	1
Shy behavior and social anxiety	+	+	+	+	+	+	100	+	+	+	+	+	+	100
Large cupped ears	+	+	+	-	+	+	83	-	+	+	+	+	-	67
Elongated face	+	+	+	+	-	+	83	-	+	+	+	+	-	67
High arched palate	+	-	+	-	+	-	50	+	+	+	-	+	-	67
Scoliosis	-	-	+	+	-	+	50	-	+	+	-	+	-	50
Joint laxity	+	+	+	+	-	+	83	-	+	+	+	+	+	83
Neurological problems	-	-	+	-	-	-	17	-	+	+	-	-	-	33
Macroorchidism	+	+	+	+	-1	-1	67
Flat feet	+	+	+	-	-	-	50	+	+	+	+	+	-	83

¹Prepubertal. 1: Mild; 2: Moderate; 3: Severe. Fam: Family; %: Percentage.