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 journalArticle

7 Citations (Scopus)

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

Fingerprint

Azoospermia
Cri-du-Chat Syndrome
Language Development Disorders
Chromosomes, Human, Pair 5
Telomere
Genetic Association Studies
Fluorescence In Situ Hybridization
Intellectual Disability
Genes
Cats
Clone Cells

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Rossi, E., De Gregori, M., Patricelli, M. G., Pramparo, T., Argentiero, L., Giglio, S., ... Zuffardi, O. (2005). 8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. American Journal of Medical Genetics, 133 A(2), 189-192. https://doi.org/10.1002/ajmg.a.30519

8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. / Rossi, Elena; De Gregori, Manuela; Patricelli, Maria Grazia; Pramparo, Tiziano; Argentiero, Luisa; Giglio, Sabrina; Sosta, Katiuscia; Foresti, Giovanni; Zuffardi, Orsetta.

In: American Journal of Medical Genetics, Vol. 133 A, No. 2, 01.03.2005, p. 189-192.

Research output: Contribution to journalArticle

Rossi, E, De Gregori, M, Patricelli, MG, Pramparo, T, Argentiero, L, Giglio, S, Sosta, K, Foresti, G & Zuffardi, O 2005, '8.5 Mb deletion at distal 5p in a male ascertained for azoospermia', American Journal of Medical Genetics, vol. 133 A, no. 2, pp. 189-192. https://doi.org/10.1002/ajmg.a.30519
Rossi, Elena ; De Gregori, Manuela ; Patricelli, Maria Grazia ; Pramparo, Tiziano ; Argentiero, Luisa ; Giglio, Sabrina ; Sosta, Katiuscia ; Foresti, Giovanni ; Zuffardi, Orsetta. / 8.5 Mb deletion at distal 5p in a male ascertained for azoospermia. In: American Journal of Medical Genetics. 2005 ; Vol. 133 A, No. 2. pp. 189-192.
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