Variability of r(22) chromosome phenotypical expression

B. Dallapiccola, V. Brinchi, P. Curatolo

Research output: Contribution to journal › Article

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

Fingerprint

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 journal › Article

Dallapiccola, B, Brinchi, V & Curatolo, P 1977, 'Variability of r(22) chromosome phenotypical expression', Acta Geneticae Medicae et Gemellologiae, vol. 26, no. 3-4, pp. 287-290.
Dallapiccola B, Brinchi V, Curatolo P. Variability of r(22) chromosome phenotypical expression. Acta Geneticae Medicae et Gemellologiae. 1977;26(3-4):287-290.
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.
@article{183656f376634b0ba0850000db5b9e88,
title = "Variability of r(22) chromosome phenotypical expression",
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.",
author = "B. Dallapiccola and V. Brinchi and P. Curatolo",
year = "1977",
language = "English",
volume = "26",
pages = "287--290",
journal = "Acta Geneticae Medicae et Gemellologiae",
issn = "0001-5660",
publisher = "Associazione Istituto di Genetica Medica e Gemellologia Gregorio Mendel",
number = "3-4",

}

TY - JOUR

T1 - Variability of r(22) chromosome phenotypical expression

AU - Dallapiccola, B.

AU - Brinchi, V.

AU - Curatolo, P.

PY - 1977

Y1 - 1977

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0017588706&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0017588706&partnerID=8YFLogxK

M3 - Article

C2 - 613695

AN - SCOPUS:0017588706

VL - 26

SP - 287

EP - 290

JO - Acta Geneticae Medicae et Gemellologiae

JF - Acta Geneticae Medicae et Gemellologiae

SN - 0001-5660

IS - 3-4

ER -

Access to Document