Table 2

Recurrent chromosomal anomalies with HSCR as a feature

Chromosome Key features Number of reports Gene References
Tri 21Down syndrome, S-HSCR, 5.5 to 10.5 male:female sex ratio2 to 10% of HSCR cases? 5, 9–13
Del 10q11Mental retardation, L-HSCR2 cases RET 33, 34
Del 13q22Mental retardation, growth retardation, dysmorphic features, S-HSCR7 cases EDNRB 35–37
Del 2q22-q23Postnatal growth retardation and microcephaly, mental retardation, epilepsy, dysmorphic features, HSCR2-150 3 cases SIP1 38–41
Del 17q214 cases?
Dup 17q21-q23MCA/MR4 cases?
Tri 22pter-q11Cat eye syndrome?
  • 2-150 Both S-HSCR and L-HSCR have been observed. Several patients presenting the same pattern of congenital malformations and normal chromosomes have been reported.39