Clinical findings in a patient mosaic for a supernumerary ring chromosome 20
โ Scribed by Austin-Ward, Enrique Daniel; Castillo, Silvia; Dragnic, Yuri; Sanz, Patricia; Salazar, Samuel; Knoll, Joan H. M.
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 35 KB
- Volume
- 91
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(20000320)91:3<171::aid-ajmg2>3.0.co;2-z
No coin nor oath required. For personal study only.
โฆ Synopsis
Marker chromosomes present a problem in genetic counseling because there are often no clear phenotype-karyotype correlations. We present the clinical findings in a patient who is mosaic for a supernumerary marker chromosome 20 determined by fluorescence in situ hybridization (FISH) and compare these findings to others reported in the literature.
๐ SIMILAR VOLUMES
We read with interest the review article by Dr. Crolla [1998] which stated that supernumerary marker chromosomes from all the human autosomes except chromosome 5 have been reported. We therefore describe a patient with a supernumerary ring chromosome 5. The patient, a boy, was the only child of hea
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