Table 3 Recurrent chromosomal anomalies with HSCR as a feature
ChromosomeKey featuresNumber of reportsGeneReferences
Tri 21Down syndrome, S-HSCR, 5.5 to 10.5 male: female sex ratio2–10% of HSCR cases?5, 11–15
Del 10q11Mental retardation, L-HSCR2 casesRET38, 146
Del 13q22Mental retardation, growth retardation, dysmorphic features, S-HSCR>10 casesEDNRB116
Del 2q22-q23Postnatal growth retardation and microcephaly, mental retardation, epilepsy, dysmorphic features, HSCR*>10 casesZFHX1B133–135, 147, 148
Del 17q21>1 case?149
Dup 17q21-q23MCA/MR4 cases?150
Tri 22pter-q11Cat eye syndrome?151

  • *Both S-HSCR and L-HSCR have been observed.