PT - JOURNAL ARTICLE AU - Watt, J L AU - Olson, I A AU - Johnston, A W AU - Ross, H S AU - Couzin, D A AU - Stephen, G S TI - A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome. AID - 10.1136/jmg.22.4.283 DP - 1985 Aug 01 TA - Journal of Medical Genetics PG - 283--287 VI - 22 IP - 4 4099 - http://jmg.bmj.com/content/22/4/283.short 4100 - http://jmg.bmj.com/content/22/4/283.full SO - J Med Genet1985 Aug 01; 22 AB - 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.