FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications

M. Gentile, A. Di Carlo, P. Volpe, A. Pansini, P. Nanna, M. C. Valenzano, A. L. Buonadonna

Research output: Contribution to journalArticle

Abstract

We report a 24-year-old woman with minor facial anomalies, mental retardation, seizures, and partial agenesis of the corpus callosum. Cytogenetic analysis showed a de novo terminal chromosome 1 long arm deletion. FISH with a panel of chromosome 1q42-qter bands-specific BAC and YAC clones located the breakpoint at the 1q42-q43 junction, with monosomy restricted to the 1q43 and 1q44 bands. The changing craniofacial phenotype of this patient with age is described as part of the del(1)(q) syndrome natural history. The patient's features are compared with those of other patients with similar deletions, and variable phenotypic findings due to different deleted chromosomal segments are discussed.

Original languageEnglish
Pages (from-to)251-254
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume117 A
Issue number3
Publication statusPublished - Mar 15 2003

Keywords

  • Chromosome 1
  • Deletion 1q
  • FISH
  • Monosomy 1q

ASJC Scopus subject areas

  • Genetics(clinical)

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    Gentile, M., Di Carlo, A., Volpe, P., Pansini, A., Nanna, P., Valenzano, M. C., & Buonadonna, A. L. (2003). FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications. American Journal of Medical Genetics, 117 A(3), 251-254.