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Paper
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Flipsen-ten Berg et al. (2007) [37]
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Chen et al. (2011) [38]
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Sifakis et al. (2012) [39]
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Malvestiti et al. (2013) [40]
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Venegas-Vega et al. (2013) [41]
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Present study
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|---|
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Patient reference
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Patient 1
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Patient 1
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Patient 1
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Patient 1
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Patient 1
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Patient 1
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Patient 2
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Size of deletion, Mb
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8.3
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6.5
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14.7
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6.29
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6.48
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3.4
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4.8
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Deleted region
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4pter-p16.1
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4p16.3-p16.1
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4p15.33-pter
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4p16.3
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4p16.1-p16.3
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4p16.3
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4p15.3–16.2
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Age at diagnosis, years
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1 and 2 months
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Prenatal
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Prenatal
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Prenatal
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9 and 9 months
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1
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2 days
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Gender
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M
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M
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M
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M
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M
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M
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M
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Cranio-facial dismorphism
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−
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+
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+
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+
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+
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+
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+
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Growth retardation
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+
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+
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+
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+
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NA
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+
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+
|
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Microcephaly
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+
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NA
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NA
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NA
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+
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+
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+
|
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Neurological features hypotonia
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+
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+
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NA
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+
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+
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+
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−
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Hypertelorism
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+
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+
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NA
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NA
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NA
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−
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+
|
|
Delayed mental development
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+
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+
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NA
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NA
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+
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−
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−
|
|
Delayed motor development
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+
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NA
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NA
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NA
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+
|
+
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−
|
|
Hypospadias
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+
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+
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NA
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NA
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NA
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−
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+
|
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Cryptorchidism
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+
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NA
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NA
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+
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NA
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−
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+
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- +, present, −, absent; NA, not available
