1.
Am J Med Genet A
; 133A(2): 193-6, 2005 Mar 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15666311
RESUMO
The authors report a familial case of mosaicism for an extra ring 20, identified by fluorescence in situ hybridization (FISH), in a mother and her child. In spite of the fact that both patients had clinical abnormalities, the more severe phenotype present in the child was probably due to the higher percentage of abnormal cells. To our knowledge, this is the first report of a familial extra ring 20 mosaicism.