Original Article
Copyright ©2012 Baishideng Publishing Group Co.
World J Med Genet. Jun 27, 2012; 2(3): 15-22
Published online Jun 27, 2012. doi: 10.5496/wjmg.v2.i3.15
Table 1 Fragile X mental retardation 1 gene analysis of index fragile X syndrome subjects
PatientSexFMR1 gene analysis
Family1/III:3MaleFull mutation
Family 2/III:2MaleMosaic premutation/full mutation
Family 3/III:2FemaleFull mutation
Family 3/III:9FemaleFull mutation
Family 4/IV:3MaleFull mutation
Family 5/III:2MaleMosaic premutation/ full mutation
Family 6/III:1MaleFull mutation
Family 7/III:2FemaleFull mutation
Family 7/III:3FemaleFull mutation
Table 2 X chromosome inactivation pattern in all full mutation females
PedigreeXCIClinical features
Family 3/III:287/13 (non random)1Affected
Family 3/III:996/4 (non random)1Affected
Family 7/III:293/7 (non random)1Affected
Family 7/III:382/18 (non random)1Affected
Family 1/III:675/25 (random)Affected (mild)
Family 4/IV:174/26 (random)Affected (mild)
Family 3/III:660/40 (random)Not affected
Family 4/III:384/16 (non random)2Not affected
Family 5/II:267/33 (random)Not affected
Table 3 Clinical features of male and female patients with fragile X syndrome
Fam 1/III:3Fam 2/III:2Fam 4/IV:3Fam 5/III:2Fam 6/III:1Fam 4/IV:2%Fam 3/III:2Fam 3/III:9Fam 7/III:2Fam 7/III:3Fam 4/IV:1Fam 1/III:6%
Intellectual disability level212212223211
Shy behavior and social anxiety++++++100++++++100
Large cupped ears+++-++83-++++-67
Elongated face++++-+83-++++-67
High arched palate+-+-+-50+++-+-67
Joint laxity++++-+83-+++++83
Neurological problems--+---17-++---33
Flat feet+++---50+++++-83