Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 319-323 |
| Number of pages | 5 |
| Journal | American Journal of Medical Genetics |
| Volume | 111 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Aug 15 2002 |
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Keywords
- Chromosome 2q partial trisomy
- Clinical phenotype
- Supernumerary marker chromosome
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Small familial supernumerary ring chromosome 2 : FISH characterization and genotype-phenotype correlation. / Giardino, Daniela; Finelli, Palma; Russo, Silvia; Gottardi, Giulietta; Rodeschini, Ornella; Atza, Maria Gabriella; Natacci, Federica; Larizza, Lidia.
In: American Journal of Medical Genetics, Vol. 111, No. 3, 15.08.2002, p. 319-323.Research output: Contribution to journal › Article
}
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
UR - http://www.scopus.com/inward/record.url?scp=0037101862&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0037101862&partnerID=8YFLogxK
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 -