TY - JOUR
T1 - Small familial supernumerary ring chromosome 2
T2 - FISH characterization and genotype-phenotype correlation
AU - Giardino, Daniela
AU - Finelli, Palma
AU - Russo, Silvia
AU - Gottardi, Giulietta
AU - Rodeschini, Ornella
AU - Atza, Maria Gabriella
AU - Natacci, Federica
AU - Larizza, Lidia
PY - 2002/8/15
Y1 - 2002/8/15
N2 - A child and his mother were found to be mosaic for a small supernumerary marker chromosome (SMC) that was identified and characterized by means of fluorescent in situ hybridization. The marker chromosome was derived from the pericentromeric region of chromosome 2; the involvement of proximal 2q was determined by YAC probes. The proband was referred because of psychotic illness and mild mental retardation, whereas his mother presented only minor dysmorphisms. There are only a few published reports concerning SMC(2) or proximal 2q trisomy. We reviewed the previously reported cases in an attempt to establish genotype-phenotype correlations, which are particularly important when SMCs are identified in prenatal diagnosis.
AB - A child and his mother were found to be mosaic for a small supernumerary marker chromosome (SMC) that was identified and characterized by means of fluorescent in situ hybridization. The marker chromosome was derived from the pericentromeric region of chromosome 2; the involvement of proximal 2q was determined by YAC probes. The proband was referred because of psychotic illness and mild mental retardation, whereas his mother presented only minor dysmorphisms. There are only a few published reports concerning SMC(2) or proximal 2q trisomy. We reviewed the previously reported cases in an attempt to establish genotype-phenotype correlations, which are particularly important when SMCs are identified in prenatal diagnosis.
KW - Chromosome 2q partial trisomy
KW - Clinical phenotype
KW - Supernumerary marker chromosome
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U2 - 10.1002/ajmg.10537
DO - 10.1002/ajmg.10537
M3 - Article
C2 - 12210331
AN - SCOPUS:0037101862
VL - 111
SP - 319
EP - 323
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 3
ER -