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Table 1 Clinical features of the patients with overlapping 4q13.3 microdeletion

From: A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

 Decipher 271532Decipher 4688Decipher 355915Quintela I et al., 2015 Patient 2 [8]This report
Proximal breakpoint (hg19)72,006,44667,129,18973,303,18068,207,27272,647,749
Distal breakpoint (hg19)76,140,12374,425,00974,459,33175,021,49474,208,199
Cytoband4q13.1q13.34q13.1q13.34q13.34q13.1q13.34q13.3
Size of deletion, Mb4.137.301.166.811.56
InheritanceDe novoDe novoNADe novoMaternalMaternalNA
GenderFMFFFFF
AgeNANANA11 yr.19 yr.14 yr.43 yr.
NeurologicIDID, delayed speech and language developmentID, autismMild IDMild IDMild ID,
cavum septi pellucidi
Mild ID
Head and faceNANANATriangular face, broad forehead,
pointed chin with chin dimple
Microcephaly, coarse faceCoarse faceCoarse face
EyesNAStrabismusNASlightly upslanted palpebral fissuresUpslanted palpebral fissuresUpslanted palpebral fissures, hypermetropic astigmatism, strabismusHypotelorism
EarsNANANANMild neurosensory hearing impairmentMild neurosensory hearing impairmentNeurosensory hearing impairment
Nose, mouthNANANABroad nasal tipMicrognathiaMicrognathiaNA
SkeletalNAShort stature, abnormality of the lower limb, clinodactyly of the 5th fingerNAShort statureShort stature, short neck, thoracolumbar scoliosisShort stature short neck, thoracolumbar scoliosis, malformed vertebrae, clinodactyly of toesShort stature, spine deformation, osteochondrosis, stenosis of the spinal canal
Cardio-vascularNANANANAbnormality of the aortic valve, atrial septal defect with atrial septal aneurysmAbnormality of the aortic valveAtrial septal defect, primary arterial hypertension, hypertensive heart disease
EndocrineNANANANADelayed pubertyHypopituitarism, delayed pubertyNA
Genito-urinaryNANANANANAHypoplasia of the right kidneyNA
  1. Abbreviations: F female, M male, yr. years, ID Intellectual disability, N Normal, NA Not Available