A homozygote for pericentric inversion of chromosome 4.
- 1 December 1982
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 19 (6), 469-471
- https://doi.org/10.1136/jmg.19.6.469
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.Keywords
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