Small supernumerary marker chromosomes (sSMCs) are structurally abnormal extra chromosomes that cannot be unambiguously identified or characterized by conventional banding techniques alone, and they are generally equal in size or smaller than chromosome 20 of the same metaphase spread. Small supernumerary ring chromosomes (sSRCs), a smaller class of marker chromosomes, comprise about 10% of the cases. For various reasons these marker chromosomes have been the most difficult to characterize; although specific syndromes have not yet been defined, 60% of cases are associated with an abnormal phenotype. The chromosomal material involved, the degree and tissutal distribution of mosaicism, and the possible presence of uniparental disomy, are the important factors determining whether or not the ring chromosome will give rise to symptoms. Using conventional and molecular cytogenetics approaches we identified a de novo chromosome 21 sSRC in a child with speech delay and mild intellectual disability. By using aCGH analysis and SNP arrays, we report the presence of two discontinuous regions of chromosome 21 and the paternal origin of the sSRC. A thorough neuropsychiatric evaluation is also provided. Only few other cases of complex discontinuous ring chromosomes have been described in detail.

Villa, N., Bentivegna, A., Ertel, A., Redaelli, S., Colombo, C., Nacinovich, R., et al. (2011). A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 155(6), 1425-1431 [10.1002/ajmg.a.34010].

A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability

BENTIVEGNA, ANGELA;REDAELLI, SERENA;NACINOVICH, RENATA;BROGGI, FIORENZA;LISSONI, SARA;DALPRA', LEDA
2011

Abstract

Small supernumerary marker chromosomes (sSMCs) are structurally abnormal extra chromosomes that cannot be unambiguously identified or characterized by conventional banding techniques alone, and they are generally equal in size or smaller than chromosome 20 of the same metaphase spread. Small supernumerary ring chromosomes (sSRCs), a smaller class of marker chromosomes, comprise about 10% of the cases. For various reasons these marker chromosomes have been the most difficult to characterize; although specific syndromes have not yet been defined, 60% of cases are associated with an abnormal phenotype. The chromosomal material involved, the degree and tissutal distribution of mosaicism, and the possible presence of uniparental disomy, are the important factors determining whether or not the ring chromosome will give rise to symptoms. Using conventional and molecular cytogenetics approaches we identified a de novo chromosome 21 sSRC in a child with speech delay and mild intellectual disability. By using aCGH analysis and SNP arrays, we report the presence of two discontinuous regions of chromosome 21 and the paternal origin of the sSRC. A thorough neuropsychiatric evaluation is also provided. Only few other cases of complex discontinuous ring chromosomes have been described in detail.
Si
Articolo in rivista - Articolo scientifico
Scientifica
Ring chromosome 21; fluorescence in situ hybridization (FISH); array-CGH
English
1425
1431
Villa, N., Bentivegna, A., Ertel, A., Redaelli, S., Colombo, C., Nacinovich, R., et al. (2011). A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 155(6), 1425-1431 [10.1002/ajmg.a.34010].
Villa, N; Bentivegna, A; Ertel, A; Redaelli, S; Colombo, C; Nacinovich, R; Broggi, F; Lissoni, S; Bungaro, S; Addya, S; Fortina, P; Dalpra', L
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10281/21869
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