Copy number variation analysis of twin pairs discordant for cleft lip with or without cleft palate

Luca Scapoli, Francesco Carinci, Annalisa Palmieri, Francesca Cura, Alessandro Baj, Giada Beltramini, Raffaella Docimo, Marcella Martinelli

Research output: Contribution to journalArticlepeer-review


Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a frequent orofacial malformation. The comparison of concordance rate observed in monozygotic and dizygotic twins supports high level of heritability and a strong genetic component. However, phenotype concordance for orofacial cleft in monozygotic twins is about 50%. The aim of the present investigation was to detect postzygotic events that may account for discordance in monozygotic twins. High-density SNP microarrays hybridization was used to genotype two pairs of monozygotic twins discordant for nsCL/P. Discordant SNP genotypes and copy number variants were analyzed to identify genetic differences responsible of phenotype discrepancy. A number of differences were observed, none involving known nsCL/P candidate genes or genomic regions. Considering the limitation of the study, related to the small sample size and to the large-scale investigation method, the results suggest that the detection of discordant events in other monozygotic twin pairs would be remarkable and warrant further investigations.

Original languageEnglish
Article number2058738419855873
JournalInternational Journal of Immunopathology and Pharmacology
Publication statusPublished - Jan 1 2019


  • cleft lip
  • cleft palate
  • monozygotic twins

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Pharmacology


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