Isochromosome 15q of maternal origin in a Prader-Willi patient with pituitary adenoma

D. Bettio, D. Giardino, N. Rizzi, P. Riva, L. Volpi, E. Barantani, A. Tagliaferri, L. Larizza

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a Prader-Willi syndrome (PWS) patient carrier of a balanced 15q15q translocation and affected by a prolactin-secreting pituitary adenoma. Evidence provided by molecular studies indicates that the structural rearrangement is an isochromosome of maternal origin. According to the identification of isodisomy as the basis of the association of rare disorders and the recent report on chromosome 15 monosomy and nullisomy in pituitary adenoma, we suggest that in our case PWS and pituitary adenoma might be related.

Original languageEnglish
Pages (from-to)213-216
Number of pages4
JournalActa Geneticae Medicae et Gemellologiae
Volume45
Issue number1-2
Publication statusPublished - 1996

Keywords

  • 15q15q Robertsonian translocation
  • Imprinting
  • Isochromosome 15
  • Prader-Willi syndrome
  • Uniparental disomy

ASJC Scopus subject areas

  • Genetics(clinical)

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