Abstract
Partial duplications of 10p and 13q in association with partial deletions of other chromosome segments have been variously reported. We describe here a female child with multiple congenital abnormalities and combined partial duplications of 10p and 13q resulting from a 3:1 segregation of a maternal t(10;13)(p13;q22). In comparing the phenotypic features of the two chromosome imbalances, the expression of features typical of partial duplication 10p appeared more pronounced.
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.
- Jalbert P., Sele B. Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations. J Med Genet. 1979 Dec;16(6):467–478. doi: 10.1136/jmg.16.6.467. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Lindenbaum R. H., Bobrow M. Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring. J Med Genet. 1975 Mar;12(1):29–43. doi: 10.1136/jmg.12.1.29. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Rivas F., Rivera H., Plascencia M. L., Ibarra B., Cantú J. M. The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation. Hum Genet. 1984;67(1):86–93. doi: 10.1007/BF00270563. [DOI] [PubMed] [Google Scholar]
- Rogers J. F. Clinical delineation of proximal and distal partial 13q trisomy. Clin Genet. 1984 Mar;25(3):221–229. doi: 10.1111/j.1399-0004.1984.tb01982.x. [DOI] [PubMed] [Google Scholar]
- Stengel-Rutkowski S., Murken J. D., Frankenberger R., Riechert M., Spiess H., Rodewald A., Stene J. New chromosomal dysmorphic syndromes. 2. Trisomy 10p. Eur J Pediatr. 1977 Oct 12;126(3):109–125. doi: 10.1007/BF00442193. [DOI] [PubMed] [Google Scholar]
- Tharapel S. A., Lewandowski R. C., Tharapel A. T., Wilroy R. S., Jr Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13. J Med Genet. 1986 Aug;23(4):310–315. doi: 10.1136/jmg.23.4.310. [DOI] [PMC free article] [PubMed] [Google Scholar]