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. 1992 Oct;29(10):739–741. doi: 10.1136/jmg.29.10.739

Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent.

C J Van Der Burgt 1, G F Merkx 1, A H Janssen 1, J C Mulder 1, R F Suijkerbuijk 1, D F Smeets 1
PMCID: PMC1016136  PMID: 1433237

Abstract

A balanced complex chromosome rearrangement (CCR) involving four chromosomes is very rare and may lead to different types of aneuploid germ cells. We report a liveborn child with multiple congenital anomalies and an apparently balanced translocation, t(11;12). High resolution chromosome analysis in the mother showed a CCR involving chromosomes 5, 11, 12, and 16. In situ hybridisation showed that this CCR was the result of a five break rearrangement, and that the derivative chromosome 12 consisted of parts of chromosomes 5, 11, and 12. From this it could be deduced that the karyotype of the child was not balanced, but resulted in partial trisomy for 5q and partial monosomy for 12p. The clinical findings in the child were compatible with partial trisomy for 5q.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Bartsch-Sandhoff M., Liersch R. Partial duplication 5q syndrome: phenotypic similarity in two sisters with identical karyotype (partial duplication 5q33 leads to 5qter and partial deficiency 8p23 leads to pter). Ann Genet. 1977 Dec;20(4):281–284. [PubMed] [Google Scholar]
  2. Curry C. J., Loughman W. D., Francke U., Hall B. D., Golbus M. S., Derstine J., Epstein C. J. Partial trisomy for the distal long arm of chromosome 5 (region q34 leads to qter). A new clinically recognizable syndrome. Clin Genet. 1979 May;15(5):454–461. [PubMed] [Google Scholar]
  3. Del Porto G., Grammatico P., De Sanctis S., Esposito M., Di Rosa C., Romano C. A balanced complex chromosomal rearrangement (BCCR) with phenotypic effect. Clin Genet. 1991 Jul;40(1):57–61. doi: 10.1111/j.1399-0004.1991.tb03068.x. [DOI] [PubMed] [Google Scholar]
  4. Gorski J. L., Kistenmacher M. L., Punnett H. H., Zackai E. H., Emanuel B. S. Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families. Am J Med Genet. 1988 Feb;29(2):247–261. doi: 10.1002/ajmg.1320290202. [DOI] [PubMed] [Google Scholar]
  5. Jones L. A., Jordan D. K., Taysi K., Strauss A. W., Toth J. K. Partial duplication of the long arm of chromosome 5: a case due to balanced paternal translocation and review of the literature. Hum Genet. 1979 Sep 2;51(1):37–42. doi: 10.1007/BF00278289. [DOI] [PubMed] [Google Scholar]
  6. Kleczkowska A., Fryns J. P., Van den Berghe H. Complex chromosomal rearrangements (CCR) and their genetic consequences. J Genet Hum. 1982 Oct;30(3):199–214. [PubMed] [Google Scholar]
  7. Looijenga L. H., Smit V. T., Wessels J. W., Mollevanger P., Oosterhuis J. W., Cornelisse C. J., Devilee P. Localization and polymorphism of a chromosome 12-specific alpha satellite DNA sequence. Cytogenet Cell Genet. 1990;53(4):216–218. doi: 10.1159/000132934. [DOI] [PubMed] [Google Scholar]
  8. Magnelli N. C., Therman E. Partial 12p deletion: a cause for a mental retardation, multiple congenital abnormality syndrome. J Med Genet. 1975 Mar;12(1):105–108. doi: 10.1136/jmg.12.1.105. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Mayeda K., Weiss L., Lindahl R., Dully M. Localization of the human lactate dehydrogenase B gene on the short arm of chromosome 12. Am J Hum Genet. 1974 Jan;26(1):59–64. [PMC free article] [PubMed] [Google Scholar]
  10. Osztovics M., Kiss P. Familial translocation, t(2;5) (p23; g31). Clin Genet. 1975 Aug;8(2):112–116. [PubMed] [Google Scholar]
  11. Rodewald A., Zankl M., Gley E. O., Zang K. D. Partial trisomy 5q: three different phenotypes depending on different duplication segments. Hum Genet. 1980;55(2):191–198. doi: 10.1007/BF00291766. [DOI] [PubMed] [Google Scholar]
  12. Scheres J. M., Merkx G. F., Hustinx T. W. Prometaphase banding of human chromosomes with basic fuchsin. Hum Genet. 1982;61(1):8–11. doi: 10.1007/BF00291322. [DOI] [PubMed] [Google Scholar]
  13. Till M., Devillard F., Crost P., Bachy M., Prieur F., Berthéas M. F. Balanced complex chromosomal rearrangements with more than four breakpoints: report of a new case. Am J Med Genet. 1991 Sep 1;40(3):370–373. doi: 10.1002/ajmg.1320400325. [DOI] [PubMed] [Google Scholar]
  14. Van Dyke D. L., Weiss L., Roberson J. R., Babu V. R. The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age. Am J Hum Genet. 1983 Mar;35(2):301–308. [PMC free article] [PubMed] [Google Scholar]
  15. Zabel B., Baumann W., Gehler J., Conrad G. Partial trisomy for short and long arm of chromosome no. 5: Two cases of two possible syndromes. J Med Genet. 1978 Apr;15(2):143–147. doi: 10.1136/jmg.15.2.143. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Zhang J., Marynen P., Devriendt K., Fryns J. P., Van den Berghe H., Cassiman J. J. Molecular analysis of the isochromosome 12P in the Pallister-Killian syndrome. Construction of a mouse-human hybrid cell line containing an i(12p) as the sole human chromosome. Hum Genet. 1989 Nov;83(4):359–363. doi: 10.1007/BF00291381. [DOI] [PubMed] [Google Scholar]

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