A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome

J L Watt; I A Olson; A W Johnston; H S Ross; D A Couzin; G S Stephen

doi:10.1136/jmg.22.4.283

A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome

J Med Genet. 1985 Aug;22(4):283-7. doi: 10.1136/jmg.22.4.283.

Authors

J L Watt, I A Olson, A W Johnston, H S Ross, D A Couzin, G S Stephen

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.

MeSH terms

Abnormalities, Multiple / genetics
Chromosome Aberrations / genetics*
Chromosome Deletion*
Chromosome Disorders
Chromosome Inversion*
Chromosomes, Human, 21-22 and Y*
Humans
Intellectual Disability / genetics
Mitosis
Monosomy*
Nucleolus Organizer Region / analysis
Pedigree
Syndrome