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Trisomy 9 (pter → q1 to q3): the phenotype as an objective aid to karyotypic interpretation


Preus, M; Schinzel, Albert; Aymé, Ségolène; Kauser, K (1984). Trisomy 9 (pter → q1 to q3): the phenotype as an objective aid to karyotypic interpretation. Clinical Genetics, 26(1):52-55.

Abstract

The phenotypic findings of three patients whose karyotypic interpretations were uncertain were compared to patients with trisomy 9 (pter → ql to q3). One with an extra, small acrocentric chromosome and another with a trisomy due to an inherited C/G translocation have a phenotype compatible with the trisomy 9 (pter → ql) syndrome. In a third patient reported with 47, XY, ?16+, the trisomy 9p probably extends past the ql region.

Abstract

The phenotypic findings of three patients whose karyotypic interpretations were uncertain were compared to patients with trisomy 9 (pter → ql to q3). One with an extra, small acrocentric chromosome and another with a trisomy due to an inherited C/G translocation have a phenotype compatible with the trisomy 9 (pter → ql) syndrome. In a third patient reported with 47, XY, ?16+, the trisomy 9p probably extends past the ql region.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Trisomy 9, karyotyping, Diagnostic score, karyotype-phenotype correlations, numerical taxonomy, 9 (pter → q1 to q3)
Language:English
Date:July 1984
Deposited On:20 Jan 2023 12:54
Last Modified:23 Jun 2024 03:40
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0009-9163
OA Status:Closed
Publisher DOI:https://doi.org/10.1111/j.1399-0004.1984.tb00788.x
PubMed ID:6467656
Other Identification Number:Corpus ID: 35736620