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Autosomal Chromosome Aberrations : A Review of the Clinical Syndromes Caused by Structural Chromosome Aberrations, Mosaic-Trisomies 8 and 9, and Triploidy


Schinzel, Albert (1976). Autosomal Chromosome Aberrations : A Review of the Clinical Syndromes Caused by Structural Chromosome Aberrations, Mosaic-Trisomies 8 and 9, and Triploidy. In: Frick, P; von Harnack, G A; Martini, G A; Prader, A; Schoen, R; Wolff, H P. Ergebnisse der Inneren Medizin und Kinderheilkunde = Advances in Internal Medicine and Pediatrics. Berlin, Heidelberg: Springer, 37-94.

Abstract

Prior to the introduction of cytogenetic techniques in human medicine some 15 years ago, only a single chromosome aberration syndrome, Down’s syndrome, was known clinically, but its etiology was still unclear. By direct chromosome examination, it was later shown that the clinical picture of Down’s syndrome is caused by the presence of an additional No. 21 chromosome, and a large number of other autosomal chromosome aberrations was also detected. With an increasing number of cases with the identical karyotype abnormality, it became evident that most, if not all, autosomal chromosome aberrations cause a rather distinct malformation syndrome. Moreover, newly developed staining techniques which reveal specific banding patterns along the chromosomes allowed a clear identification of every particular chromosome and a better assessment of the amount and the localization of the chromosome material present in the trisomic or monosomic state. Fig. 1 shows the bands revealed by Quinacrine fluorescence and Giemsa staining techniques (Q and G-bands) as defined and numbered at the Paris Conference (1971). Fig. 2 presents a karyotype with a balanced translocation between chromosomes 15 and 18 with the breakpoints at bands 15q26 and 18q21: 46,XY,t (15;18) (q26;q21) (Schinzel et al., 1975a).

Abstract

Prior to the introduction of cytogenetic techniques in human medicine some 15 years ago, only a single chromosome aberration syndrome, Down’s syndrome, was known clinically, but its etiology was still unclear. By direct chromosome examination, it was later shown that the clinical picture of Down’s syndrome is caused by the presence of an additional No. 21 chromosome, and a large number of other autosomal chromosome aberrations was also detected. With an increasing number of cases with the identical karyotype abnormality, it became evident that most, if not all, autosomal chromosome aberrations cause a rather distinct malformation syndrome. Moreover, newly developed staining techniques which reveal specific banding patterns along the chromosomes allowed a clear identification of every particular chromosome and a better assessment of the amount and the localization of the chromosome material present in the trisomic or monosomic state. Fig. 1 shows the bands revealed by Quinacrine fluorescence and Giemsa staining techniques (Q and G-bands) as defined and numbered at the Paris Conference (1971). Fig. 2 presents a karyotype with a balanced translocation between chromosomes 15 and 18 with the breakpoints at bands 15q26 and 18q21: 46,XY,t (15;18) (q26;q21) (Schinzel et al., 1975a).

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Additional indexing

Item Type:Book Section, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
570 Life sciences; biology
Uncontrolled Keywords:Genetics, Genetics (clinical),
Language:English
Date:1976
Deposited On:28 Mar 2024 08:54
Last Modified:02 Apr 2024 11:28
Publisher:Springer
Series Name:Ergebnisse der Inneren Medizin und Kinderheilkunde
ISSN:0071-111X
ISBN:9783662218846
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/978-3-662-21883-9_2
Related URLs:https://api.semanticscholar.org/CorpusID:2628177 (Organisation)
PubMed ID:389192
Other Identification Number:Corpus ID: 12628177