Variability of r(22) chromosome phenotypical expression

B. Dallapiccola, V. Brinchi, P. Curatolo

Research output: Contribution to journalArticlepeer-review


Two unrelated patients with multiple congenital malformations and severe mental retardation were found to be carriers of a non-mosaic ring 22 chromosome abnormality. These observations further confirm the phenotypical variability of r(22) expression, which makes unreliable the attempts to delineate a clinical profile of the syndrome.

Original languageEnglish
Pages (from-to)287-290
Number of pages4
JournalActa Geneticae Medicae et Gemellologiae
Issue number3-4
Publication statusPublished - 1977

ASJC Scopus subject areas

  • Genetics(clinical)

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