Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation.
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.
Giardino
Daniela
D
Cytogenetics and Molecular Genetics Laboratory, Auxological Institute, Milan, Italy. giardino@auxologico.it
Finelli
Palma
P
Russo
Silvia
S
Gottardi
Giulietta
G
Rodeschini
Ornella
O
Atza
Maria Gabriella
MG
Natacci
Federica
F
Larizza
Lidia
L
D000328:Adult; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000209:etiology / Q000235:genetics; D002889:Chromosomes, Human, Pair 2; D019465:Craniofacial Abnormalities / Q000209:etiology / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D012303:Ring Chromosomes