Table 1 Comparison of clinical features of male patients with Xq28 duplication syndrome
From: Duplication within two regions distal to MECP2: clinical similarity with MECP2 duplication syndrome
Age | Spasticity of lower legs | Epilepsy | Cranial and brain abnormality | Recurrent -infection | Intellectual disability | Behavioral and autistic problems | |||
|---|---|---|---|---|---|---|---|---|---|
A. Clinical features of male patients with MECP2 duplication syndrome (Region 1) | |||||||||
Am J Hum Genet. 2005 | Van Esch et al. | L36 | 4/4 | 3/4 | 1/4 microcephaly | 3/6 | 6/6 severe | ND | |
S49 III-2 | 12 years | (+) | (+) | (−) | (+) | severe | (±) | ||
Eur J Hum Genet. 2009 | Lugtenberg, et al. | FB II -7 | 15 years | (+) | (+) | (+) | (−) | mod–severe | (+) |
FB III -1 | 18 years | (−) | (+) | (+) | (−) | mod | (−) | ||
FB III -2 | 10 years | (−) | (+) | (+) | (−) | severe | ND | ||
FB III -5 | 6 years | (−) | (−) | ND | (−) | severe | ND | ||
FC II-I | 23 years | (+) | (+) | (+) macrocephaly | (+) | mod–severe | ND | ||
FC II-II | 23 years | (−) | (−) | (+) macrocephaly | (−) | mod–severe | ND | ||
FE II-1 | 11 years | (−) | (+) | (−) | ND | mod–severe | ND | ||
FE II-2 | 8 years | (−) | (−) | (−) | (−) | severe | ND | ||
Brain Dev. 2013 | Shimada et al. | P 3 | 5 years | (−) | (+) | (+) | ND | severe | ND |
Age | Spasticity of lower legs | Epilepsy | Cranial and brain abnormality | Recurrent infection | Intellectual disability | Behavioral and autistic problems | |||
|---|---|---|---|---|---|---|---|---|---|
B. Clinical features of male patients with K/L-mediated Xq28 duplication syndrome (Region 2) | |||||||||
Am J Hum Genet. 2009 | Vandewalle et al. | F1 IV.2 | 6 years | (+) pyramidal sign | ND | (+) | ND | mod IQ50 | (−) |
F1 III.10 | 37 years | (+) pyramidal sign | ND | ND | ND | mod | (−) | ||
F1 III.19 | adult | (±) | ND | ND | ND | mod | (−) | ||
F2 II.1 | 3.5 years | ND | (+) | (+) microcephaly | (+) | severe | ND | ||
F2 II.2 | 19 months | ND | (−) | (+) | ND | ND | |||
F3 II.2 | 7 years | (−) | neonatal convulsion | (+) | ND | mild IQ 58 | (−) | ||
F4 II.1 | 2 years | ND | (−) | (−) | ND | mild | ND | ||
Am J Med Genet A. 2018 | Ward et al. | F1-P1 | 2 years | (+) | (+) | (+) | (+) | ND | |
F2-P4 | 18 years | ND | (−) | (+) | ND | mild | (−) | ||
F2-P7 | 8 years | ND | ND | (+) brachycephaly | ND | mild | (+) | ||
Clincal Genet. 2019 | Sinibald et al. | P1 | 40 years | (±) toes,camptodactyly | (+) | (+) microcephaly | ND | mod | ND |
P2 | 6 years | ND | ND | (+) microcephaly | ND | mild | ND | ||
P3 | 11 years | (+) | ND | (−) | ND | mild | (−) LD | ||
P4 | 5 years | ND | ND | (+) microcephaly | ND | mod | ND | ||
P5 | 4 years | ND | EEG abnormal | (+) microcephaly | ND | mild IQ67 | ND | ||
Age | Spasticity of lower legs | Epilepsy | Cranial and brain abnormality | Recurrent infection | Intellectual disability | Behavioral and autistic problems | |||
|---|---|---|---|---|---|---|---|---|---|
C. Clinical features of male patients with Int22h-1/int22h-2-mediated Xq28 duplication syndrome (Region 3) | |||||||||
J Med Genet. 2011 | El-Hattab et al. | F1-1 | 11 years | (±) | ND | (−) | (+) | (+) | (+) |
F1-2 | 3 years | ND | ND | ND | (+) | (+) | ND | ||
F2 | 3 years | ND | ND | (+) microcephaly | (+) | mild | (+) | ||
F3 | 15 years | ND | ND | (−) | (+) | mild IQ57 | (+) | ||
Hum. Mutat. 2014 | Vanmarsenille et al. | II-1 | 6.5 years | ND | ND | ND | ND | mod | (+) |
II-2 | 3 years | ND | ND | ND | ND | mild | ND | ||
AV1 | 22 years | ND | ND | (−) | ND | mild IQ61 | (+) | ||
KM1 | 6.5 years | (+) | (−) | (−) | (+) | mild IQ60 | ND | ||
BMC Med Genet. 2015 | El-Hattab et al. | F1-1 | 9 months | ND | ND | ND | (+) | (+) | ND |
F2-1 | 9 years | ND | ND | ND | (+) | (+) | (+) | ||
F2-2 | 6 years | ND | ND | ND | (+) | (+) | (+) | ||
F3-1 | 15 years | ND | ND | (+) macrocephaly | (+) | (+) | (+) | ||
F4-1 | 12 years | ND | ND | ND | (+) | mild IQ59 | (+) | ||