Table 2

Clinical and molecular features of overlapping 1p21.3 microdeletions in patients 1–5

Patient1*2*3*45Overlapping region
Size of deletion1.75 Mb1.75 Mb1.75 Mb1.41 Mb2.45 Mb1.22 Mb
Mb positions (Hg 18)97.50–99.2597.50–99.2597.50–99.2597.32–98.7396.27–98.7297.50–98.72
Involved genesDPYD, SNX7, LPPR5, MIR137DPYD, SNX7, LPPR5, MIR137DPYD, SNX7, LPPR5, MIR137DPYD, MIR137PTBP2, DPYD, MIR137DPYD, MIR137
GenderMaleMaleFemaleMaleFemale
Age at clinical examination42 years38 years–33 years18 years
Total
Intellectual disabilityBorderline-mild (TIQ 73, verbal IQ 65, performal IQ 90)Mild-moderate (TIQ 52, verbal IQ < performal IQ (70)Mild-moderateMild (TIQ 62, verbal IQ 59, performal IQ 71)Mild (TIQ 66)5/5
Behaviour characteristics
 Features of ASD++Unknown+−3/4
 (Tendency) to overeating+++−3/4
 Self mutilation−+−−1/4
 Aggressive outbursts−+−+2/4
 Remarkable shy and friendly++++4/4
Specific speech deficitsNT+NT+NT2/2
Weight90th centile>98th centileUnknown98th centile>98th centile4/4 (tendency) to overweight
Facial characteristics
 Deeply set eyes+−Unknown+−2/4
 Full cheeks−−++2/4
 Micrognathia−−+−1/4
 Broad nasal tip+++−3/4
 Long ears++++4/4
 Macrostomia−+−−1/4
 Thick lower lip++++4/4
Ocular problemsMyopiaAstigmatismUnknownAstigmatism, myopia−3/4

  • ↵* Patients 1–3 are sibs.

  • ASD, autism spectrum disorder; NT, not tested; TIQ, total intelligence quotient.