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Table 3 Clinical features of DGDP005 along with five additional microdeletion cases and a balanced translocation t(1;20)(p31.3;q13.31)dn disrupting the NFIA gene

From: Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability

Clinical features DGDP005 del(1)p31.3 p32.2 Koehler et al. 2010 del(1)p31.3 p32.2 Campbell et al. 2002 DGAP205-1 & DGAP205-1S del(1)p31.3 p32.3 Ji et al.2014 del(1)p31.1 p32.2 Rao et. al 2014 del(1) p31.3 Lu et al., 2007 DGAP174adel(1)(p31.3 p32.1) Lu et al., 2007 DGAP104 Balanced translocation t(1;20) (p31.3;q13.31)dn
Developmental delay + + + + + + +
Intellectual disability + NS + NS NS + +
Macrocephaly + + + + + + +
Frontal bossing + - + NS NS NS NS
Developmental encephalopathy + - - - - - -
OHT + - - - - - -
Intraventricular hemorrhage + - + + - - -
Impaired motor skills + NS + NS NS + +
Attention deficit disorder + NS - NS NS + +
Hypertonia + NS NS NS NS - NS
OCD + - + - NS - -
Seizures - - + + - NS NS
Abnormal corpus callosum NS + + + + + +
Ventriculomegaly - + + + + + -
Tethered spinal cords - - + - - + +
Chiari I malformation - NS + - - + +
Urinary tract defects - - + + + NS -
  1. NS: Not Stated; Pt: Patient
  2. aDGAP174 also has an additional chromosome translocation, 46,XY, t(1:3)(p31.1;q25.1)dn