Abstract
A 6-year-old boy with speech delay and mild mental retardation (IQ 82) was found to have a complex double translocation involving four chromosomes and a total of five breakpoints, two being on the same arm. This resulted in the karyotype 46,XY,t(2;4;7)(7;8)(q14;q31;q11q22;q13). As far as the authors are aware this is the first time that such a complex double translocation has been reported. Both parents had normal karyotypes.
Full text
PDF



Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Buchanan P. D., Rao K. W., Doerr C. L., Aylsworth A. S. A complex translocation involving chromosomes 3,11, and 14 with an interstitial deletion, del(14) (q13q22) in a child with congenital glaucoma and cleft lip and palate. Birth Defects Orig Artic Ser. 1978;14(6C):317–322. [PubMed] [Google Scholar]
- Funderburk S. J., Spence M. A., Sparkes R. S. Mental retardation associated with "balanced" chromosome rearrangements. Am J Hum Genet. 1977 Mar;29(2):136–141. [PMC free article] [PubMed] [Google Scholar]
- Jacobs P. A. Correlation between euploid structural chromosome rearrangements and mental subnormality in humans. Nature. 1974 May 10;249(453):164–165. doi: 10.1038/249164a0. [DOI] [PubMed] [Google Scholar]
- Martinetti J., Noel B. Remaniement complexe de novo touchant quatre chromosomes chez un nouveau-né. Ann Genet. 1973 Dec;16(4):285–288. [PubMed] [Google Scholar]
- Schwinger E., Mikkelsen M., Niesen M. Familial balanced (7;11;21) translocation and Down's syndrome in two siblings. Clin Genet. 1975 Apr;7(4):304–307. doi: 10.1111/j.1399-0004.1975.tb00333.x. [DOI] [PubMed] [Google Scholar]
- Seabright M., Gregson N., Pacifico E., Mould S., Ryde J., Pearson J., Bradley A. Rearrangements involving four chromosomes in a child with congenital abnormalities. Cytogenet Cell Genet. 1978;20(1-6):150–154. doi: 10.1159/000130846. [DOI] [PubMed] [Google Scholar]
- Sumner A. T. A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res. 1972 Nov;75(1):304–306. doi: 10.1016/0014-4827(72)90558-7. [DOI] [PubMed] [Google Scholar]



