Dicentric chromosome 9 due to tandem dup
β Lukusa, T.; Devriendt, K.; Holvoet, M.; Fryns, J.P.
π Article
π
2000
π John Wiley and Sons
π English
β 30 KB
β¦ LIBER β¦
Centric fission of chromosome 9 in a boy with trisomy 9p
β Scribed by Concolino, D.; Cinti, R.; Moricca, M.; Andria, G.; Strisciuglio, P.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 12 KB
- Volume
- 79
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980827)79:1<35::aid-ajmg9>3.0.co;2-h
No coin nor oath required. For personal study only.
β¦ Synopsis
A centric fission of chromosome 9 was found in a boy with trisomy 9p resulting from a de novo del (9p) and a 9p isochromosome. The patient presented with clinical findings similar to those described in previously reported cases of trisomy 9p. The cytogenetic evaluation and the molecular analysis using fluorescence in situ hybridization (FISH) with specific alphoid probe for chromosome 9 showed a karyotype of 47,XY,+del(9)(q10),+i(9p). We suggest that the mechanism leading to this situation is unusual. Am.
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We describe a 34-year-old healthy woman with isochromosomes for the short and long arm of chromosome 9 who was ascertained because of repeated spontaneous abortions. Molecular analysis demonstrated maternal uniparental isodisomy for the whole chromosome 9, thus the origin of the isochromosomes was m
Supernumerary chromosome inherited from
Supernumerary chromosome inherited from a maternal balanced translocation leading to pure trisomy 9p
β Tihy, FrοΏ½dοΏ½rique; Lemyre, Emmanuelle; Dallaire, Louis; Lemieux, Nicole
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2000
π John Wiley and Sons
π English
β 18 KB
We describe a child with a supernumerary chromosome defined as der(9)t(9;22) (q12;p11), resulting in trisomy 9p and trisomy 22p. The mother carried the balanced translocation. In G- and C-banding the derivative chromosome 9 appeared to be dicentric and to contain 22q material. Using in situ hybridiz
Tetrasomy 9p due to an intrachromosomal
β Verheij, Joke B.G.M.; Bouman, KatelοΏ½ne; van Lingen, Richard A.; van Lookeren Cam
π Article
π
1999
π John Wiley and Sons
π English
β 27 KB
π 1 views
To date, approximately 30 patients have been described with a tetrasomy 9p, all being caused by the presence of an isochromosome 9p. We now report on a 3-year-old boy with a de novo intrachromosomal triplication of 9p13-p22, resulting in partial tetrasomy 9p. We compared his phenotype with cases of
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