A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome.
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002904:Chromosomes, Human, 21-22 and Y; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008938:Mitosis; D009006:Monosomy; D009697:Nucleolus Organizer Region / Q000032:analysis; D010375:Pedigree; D013577:Syndrome