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
โฆ LIBER โฆ
Supernumerary ring chromosome 20 in a mother and her child
โ Scribed by M.R. Pinto; M.L. Fonseca e Silva; J. Aguiar; I. Quelhas; M.R. Lima
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 120 KB
- Volume
- 133A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract We present a familial case of isochromosome 18p [i(18p)] as a supernumerary chromosome. The mother, who is a mosaic for i(18p) with partial tetrasomy 18p syndrome, transmitted the isochromosome to her only child. The child has the full syndrome of tetrasomy 18p. This is the first case o
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