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

Authors
Austin-Ward, ED Castillo, S Dragnic, Y Sanz, P Salazar, S Knoll, JHM
Citation
Ed. Austin-ward et al., Clinical findings in a patient mosaic for a supernumerary ring chromosome 20, AM J MED G, 91(3), 2000, pp. 171-174
Citations number
16
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
91
Issue
3
Year of publication
2000
Pages
171 - 174
Database
ISI
SICI code
0148-7299(20000320)91:3<171:CFIAPM>2.0.ZU;2-8
Abstract
Marker chromosomes present a problem in genetic counseling because there ar e often no clear phenotype-karyotype correlations. We present the clinical findings in a patient who is mosaic for a supernumerary marker chromosome 2 0 determined by fluorescence in situ hybridization (FISH) and compare these findings to others reported in the literature. (C) 2000 Wiley-Liss, Inc.