Combination of monosomy 5p15.3 and trisomy 9p23: Clinical and cytogenetic definition of both conditions

D. Melis, F. Majo, V. M. Ginocchio, D. De Brasi, L. Nitsch, A. Conti, R. Genesio, F. Fabbrini, P. Tedeschi, Roberto Della Casa

Research output: Contribution to journalArticle

Abstract

We describe a patient with an unbalanced translocation, leading to duplication 9p23→pter and deletion 5p15.32→pter, showing clinical features of both 5p- and dup9p syndromes. Our report suggests that a specific phenotype due to 5p15.33 deletion exists and that the critical region for dup9p syndrome should be extended to 9p23.

Original languageEnglish
Pages (from-to)107-111
Number of pages5
JournalItalian Journal of Pediatrics
Volume33
Issue number2
Publication statusPublished - Apr 2007

Keywords

  • Cerebral ventricles enlargement
  • Chromosomal translocation
  • Chromosome
  • Chromosome 5
  • Neonatal cat-like cry

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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    Melis, D., Majo, F., Ginocchio, V. M., De Brasi, D., Nitsch, L., Conti, A., Genesio, R., Fabbrini, F., Tedeschi, P., & Della Casa, R. (2007). Combination of monosomy 5p15.3 and trisomy 9p23: Clinical and cytogenetic definition of both conditions. Italian Journal of Pediatrics, 33(2), 107-111.