The search for hemizygosity at 22q11 in patients with isolated cleft palate

Rita Mingarelli, Maria Cristina Digilio, Aldo Mari, Francesca Amati, Lucio Standoli, Aldo Giannotti, Giuseppe Novelli, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review


The striking association between oral clefting and the velocardio-facial syndrome (VCFS), a common disorder pathogenetically related to 22q11 deficiency, has prompted the search for this deletion in a group of patients with isolated cleft palate (CP). Thirty-three patients with posterior CP and 5 with complete CP were included in this study, together with 12 patients with a clinical diagnosis of VCFS. Standard and high resolution chromosome analysis was performed, providing normal results. Southern blotting followed by densitometric analysis and fluorescent in situ hybridization of region 22q11 showed no single case of deletion among the isolated CP patients, while deficiency was found in 10 of 12 VCFS patients. These results demonstrate that hemizygosity at 22q11 is not increased in isolated CP.

Original languageEnglish
Pages (from-to)118-121
Number of pages4
JournalJournal of Craniofacial Genetics and Developmental Biology
Issue number2
Publication statusPublished - 1996


  • Chromosome 22
  • Cleft palate
  • Velo-cardio-facial syndrome

ASJC Scopus subject areas

  • Developmental Biology
  • Genetics


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