Prevalence of fragile X syndrome in males and females in Indonesia

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World Journal of Medical Genetics

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2220-3184

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Med Genet. Jun 27, 2012; 2(3): 15-22
Published online Jun 27, 2012. doi: 10.5496/wjmg.v2.i3.15

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.

Citation: Mundhofir FE, Winarni TI, Nillesen W, Bon BWV, Schepens M, Ruiterkamp-Versteeg M, Hamel BC, Yntema HG, Faradz SM. Prevalence of fragile X syndrome in males and females in Indonesia. World J Med Genet 2012; 2(3): 15-22
URL: https://www.wjgnet.com/2220-3184/full/v2/i3/15.htm
DOI: https://dx.doi.org/10.5496/wjmg.v2.i3.15

Mundhofir FE, Winarni TI, Nillesen W, Bon BWV, Schepens M, Ruiterkamp-Versteeg M, Hamel BC, Yntema HG, Faradz SM. Prevalence of fragile X syndrome in males and females in Indonesia. World J Med Genet 2012; 2(3): 15-22 [DOI: 10.5496/wjmg.v2.i3.15]

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