Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18.
Open Access
- 1 October 1976
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 13 (5), 366-370
- https://doi.org/10.1136/jmg.13.5.366
Abstract
A pericentric inversion of chromosome 18 is described in the mother of a patient with clinical diagnosis of 18q--syndrome. The propositus' chromosome complement includes the recombinant 18 with deficiency of the distal one-third of the long arm and duplication of the terminal segment of the short arm. The propositus' sister carrier the recombinant 18 with a duplication of the distal one-third of the long arm and a deficiency of the terminal segment of the short arm. The relative length of the inverted segment represents about 60% of the total chromosome 18 length. The probability of recombinant formation following the occurrence of a chiasma within the inverted segment is predicted to be high.Keywords
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