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Supernumerary ring chromosome 8: Clinical and molecular cytogenetic characterization in a case report
Author(s) -
Demori Eliana,
Devescovi Raffaella,
Benussi Daniela Gambel,
Dolce Silvia,
Carrozzi Marco,
Villa Nicoletta,
Miertus Jan,
Amoroso Antonio,
Pecile Vanna
Publication year - 2004
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.20677
Subject(s) - ring chromosome , small supernumerary marker chromosome , supernumerary , marker chromosome , biology , fluorescence in situ hybridization , genetics , karyotype , chromosome , chromosome 21 , uniparental disomy , chromosome 15 , trisomy , chromosome 9 , microbiology and biotechnology , gene , anatomy
We report on a 3‐year‐old male with developmental delay, autistic behavior, and minor abnormalities consistent with trisomy 8 syndrome whose cytogenetic analysis revealed mosaicism for a supernumerary ring chromosome (SRC). Fluorescence in situ hybridization (FISH) studies, using centromeric and yeast artificial chromosome (YAC) probes, were performed to characterize further the supernumerary chromosome. The ring origin has been detected from the short arm of chromosome 8, resulting in r(8)(p10p23.1). Moreover, uniparental disomy (UPD) using microsatellite analysis was excluded. To our knowledge a total of 25 cases, confirmed by FISH, have been reported with either supernumerary marker or ring chromosome 8. We present a detailed clinical and molecular cytogenetic characterization of this additional case in order to better define the genotype–phenotype correlation. © 2004 Wiley‐Liss, Inc.