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Case Reports
. 1982 Dec;19(6):469-71.
doi: 10.1136/jmg.19.6.469.

A homozygote for pericentric inversion of chromosome 4

N J Carpenter, B Say, N D Barber
Case Reports

A homozygote for pericentric inversion of chromosome 4

N J Carpenter et al. J Med Genet. 1982 Dec.

Abstract

A child with developmental and language delay was found to be homozygous for a pericentric inversion of chromosome 4 (inv(4) (p15 X 2q12)). Her normal mother and aunt are inversion heterozygotes. It is suggested that the phenotypic abnormalities may have resulted from damage at chromosomal breakpoints or from a position effect which is expressed only in homozygous form.

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References

    1. Am J Hum Genet. 1970 Nov;22(6):679-90 - PubMed
    1. Cytogenetics. 1972;11(2):132-44 - PubMed
    1. Cytogenetics. 1972;11(5):400-11 - PubMed
    1. Ann Genet. 1974 Jun;17(2):109-14 - PubMed
    1. Ann Genet. 1974 Jun;17(2):115-8 - PubMed

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