Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1992 Oct;29(10):739-41.
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, A H Janssen, J C Mulder, R F Suijkerbuijk, D F Smeets
Affiliations
Case Reports

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 et al. J Med Genet. 1992 Oct.

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.

PubMed Disclaimer

Similar articles

See all similar articles

References

    1. Ann Genet. 1977 Dec;20(4):281-4 - PubMed
    1. Hum Genet. 1982;61(1):8-11 - PubMed
    1. Clin Genet. 1991 Jul;40(1):57-61 - PubMed
    1. Cytogenet Cell Genet. 1990;53(4):216-8 - PubMed
    1. Am J Med Genet. 1988 Feb;29(2):247-61 - PubMed

Publication types

LinkOut - more resources