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. 1982 Dec;19(6):469–471. doi: 10.1136/jmg.19.6.469

A homozygote for pericentric inversion of chromosome 4.

N J Carpenter, B Say, N D Barber
PMCID: PMC1048967  PMID: 6185681

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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Selected References

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