Mental Retardation, Tall Stature and Minor Phenotypic Abnormalities Associated with a de novo Complex Chromosome Rearrangement

Abbreviations

CCR complex chromosomal rearrangement MR mental retardation FISH fluorescence in situ hybridization EKG electrocardiogram MRI magnetic resonance imaging

References

• 1 Antonacci R, Marzella R, Finelli P, Lonace A, Forabosco A, Archidiacono N. et al . A panel of subchromosomal painting libraries representing over 300 regions of the humane genome.  Cytogenet Cell Genet. 1995;  68 25-32
• 2 Archidiacono N, Antonacci R, Marzella R, Fielli P, Lonoce A, Rocchi M. Comparative mapping of human alphoid sequences in great apes using fluorescence in situ hybridization.  Genomics. 1995;  25 477-484
• 3 Curra C J, Stevenson R E, Aughton D, Byrne J, Carey J C, Cassidy S. et al . Evaluation of mental retardation: Recommendations of a consensus conference.  Am J Med Genet. 1997;  72 468-477
• 4 Dutrillaux B, Viegas-Pequignot E. High resolution R and G banding on the same preparation.  Hum Genet. 1981;  57 93-95
• 5 Fryns J P, Kleczkowska A, Lebas E, Goffaux P, Van den Berghe H. Complex chromosomal rearrangement in a mentally retarded boy without gross dysmorphic stigmata.  Acta Paediatr Scand. 1984;  73 138-140
• 6 Hagberg B, Kyllerman M. Epidemiology of mental retardation - a Swedish survey.  Brain Dev. 1983;  5 441-449
• 7 Johannesson T, Ehelers S, Wahlstrom J. Complex chromosome rearrangement involving chromosoms 1, 4 and 16 detected by fluorescence in situ hybridization.  Clin Genet. 1997;  51 281-285
• 8 Joyce C A, Cabral de Almeida J C, Santa Rose A A, Correia P, Morales L, Batos E. et al . A de novo complex chromosomal rearrangement with nine breakpoints characterised by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly.  Clin Genet. 1999;  56 86-92
• 9 Madan K, Nieuwint A WM, van Bever Y. Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations.  Hum Genet. 1997;  99 806-815
• 10 Pinkel D, Straume T, Gray J. Cytogenetic analysis using quantitative, highly sensitive, fluorescence in situ hybridization.  Proc Natl Acad Sci USA. 1986;  83 2934-2938
• 11 Sotos J F. Genetic disorders associated with overgrowth.  Clin Pediatr. 1997;  36 39-49
• 12 Verma R S, Pulivarthi R H. Balanced chromosomal translocations and mental illness.  J Ment Defic Res. 1991;  35 548-550
• 13 Wirth J, Nothwang H G, van der Maarel S, Menzel C, Borck G, Lopez-Pajares I. et al . Systemic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes.  J Med Genet. 1999;  36 271-278