8.5 Mb deletion at distal 5p in a male ascertained for azoospermia

Elena Rossi, Manuela De Gregori, Maria Grazia Patricelli, Tiziano Pramparo, Luisa Argentiero, Sabrina Giglio, Katiuscia Sosta, Giovanni Foresti, Orsetta Zuffardi

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a 5p- azoospermic male not showing the clinical features diagnostic for the cri-du-chat syndrome but for a breathy, raspy voice. The 5p deletion breakpoint, determined by fluorescent in situ hybridization (FISH) analysis with BAC clones, maps 8.5 Mb far from the short arm telomere in 5p15.31. Genotype/phenotype correlations in this subject, including his neuropsychological assessment, led us to define that the gene for the cat-like cry and one gene responsible for mild mental retardation with speech delay map both in the distal 8.5 Mb of chromosome 5 short arm.

Original languageEnglish
Pages (from-to)189-192
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume133 A
Issue number2
DOIs
Publication statusPublished - Mar 1 2005

Keywords

  • 5p deletion
  • Azoospermic male
  • Fish analysis
  • Neuropsychological assessment

ASJC Scopus subject areas

  • Genetics(clinical)

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