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Chromosomes in coloboma and anal atresia


Schachenmann, G; Schmid, Werner; Fraccaro, M; Mannini, Anna; Tiepolo, L; Perona, G P; Sartori, E (1965). Chromosomes in coloboma and anal atresia. The Lancet, 286(7406):290.

Abstract

SIR, -The association of coloboma with anal atresia was described in 1878 by Haab.1 We have been studying the chromosomes of 3 cases of this syndrome, independently ascertained in Zurich (cases 1 and 2) and Pavia (case 3). The phenotypic similarity of the 3 patients and the consistent finding in all of an abnormal extra chromosome of identical appearance indicate that this could be a new "chromosomal" disease. The clinical data are given below.

Abstract

SIR, -The association of coloboma with anal atresia was described in 1878 by Haab.1 We have been studying the chromosomes of 3 cases of this syndrome, independently ascertained in Zurich (cases 1 and 2) and Pavia (case 3). The phenotypic similarity of the 3 patients and the consistent finding in all of an abnormal extra chromosome of identical appearance indicate that this could be a new "chromosomal" disease. The clinical data are given below.

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Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > General Medicine
Uncontrolled Keywords:General Medicine, Genetics, Genetics (clinical), Anal Canal, Anus, Imperforate, Child, Chromosome Aberrations, Chromosome Disorders, Chromosomes, Coloboma, Congenital Abnormalities, Eye Diseases, Humans, Infant, Intestinal Diseases
Language:English
Date:1 August 1965
Deposited On:15 Aug 2023 14:54
Last Modified:30 Mar 2024 04:31
Publisher:Elsevier
ISSN:0140-6736
OA Status:Closed
Publisher DOI:https://doi.org/10.1016/s0140-6736(65)92415-3
PubMed ID:14330081