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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.
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.
| 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: | 28 Dec 2024 02:41 |
| 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 |
Preus, M