A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome
- PMID: 4045954
- PMCID: PMC1049449
- DOI: 10.1136/jmg.22.4.283
A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome
Abstract
A family in which a pericentric inversion of chromosome 22, inv(22)(p11q12), is segregating is described. Special reference is made to a unique recombinant subject with a 'pure' partial monosomy 22 syndrome of maternal origin. An attempt has been made to correlate the phenotypic abnormalities with monosomy for the segment 22q12----qter.
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