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
. 1979 Apr 17;48(1):7-12.
doi: 10.1007/BF00273267.

Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents

S Ayme, M G Mattei, J F Mattei, F Giraud
Case Reports

Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents

S Ayme et al. Hum Genet. .

Abstract

Three patients have been detected because of abnormal phenotypes. Balanced chromosome rearrangements were found in their karyotypes, and in one of the parents in each case. In these three families the association of an abnormal phenotype and a balanced chromosome rearrangement may either be a chance happening or be induced by a submicroscopic loss of chromosome material, for which different position effects may be responsible, according to the case in question. These observations prompt us to ask what decision should be made relative to termination of pregnancy if such a rearrangement is found in amniotic cells in a family with a previous abnormal child.

PubMed Disclaimer

References

    1. Ann Genet. 1974 Sep;17(3):197-9 - PubMed
    1. Ann Genet. 1975 Jun;18(2):117-20 - PubMed
    1. J Med Genet. 1975 Jun;12(2):207-10 - PubMed
    1. Clin Genet. 1975 Sep;8(3):213-7 - PubMed
    1. Am J Hum Genet. 1977 Mar;29(2):136-41 - PubMed

Publication types