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Clinical findings in a patient mosaic for a supernumerary ring chromosome 20

โœ 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

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โœฆ 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.


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