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Supernumerary ring chromosome 20 in a mother and her child
Author(s) -
Pinto M.R.,
Fonseca e Silva M.L.,
Aguiar J.,
Quelhas I.,
Lima M.R.
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30532
Subject(s) - supernumerary , ring chromosome , fluorescence in situ hybridization , ring (chemistry) , genetics , fish <actinopterygii> , chromosome , biology , karyotype , anatomy , chemistry , gene , organic chemistry , fishery
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. © 2005 Wiley‐Liss, Inc.