Variability of r(22) chromosome phenotypical expression

B. Dallapiccola, V. Brinchi, P. Curatolo

Research output: Contribution to journalArticle

Abstract

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
Volume26
Issue number3-4
Publication statusPublished - 1977

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Chromosomes, Human, Pair 22
Chromosome Aberrations
Intellectual Disability

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Variability of r(22) chromosome phenotypical expression. / Dallapiccola, B.; Brinchi, V.; Curatolo, P.

In: Acta Geneticae Medicae et Gemellologiae, Vol. 26, No. 3-4, 1977, p. 287-290.

Research output: Contribution to journalArticle

Dallapiccola, B. ; Brinchi, V. ; Curatolo, P. / Variability of r(22) chromosome phenotypical expression. In: Acta Geneticae Medicae et Gemellologiae. 1977 ; Vol. 26, No. 3-4. pp. 287-290.
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