TY - JOUR T1 - Fortuitous detection of uniparental isodisomy of chromosome 6. JF - Journal of Medical Genetics JO - J Med Genet SP - 77 LP - 78 DO - 10.1136/jmg.34.1.77 VL - 34 IS - 1 AU - M C Bittencourt AU - M A Morris AU - J Chabod AU - A Gos AU - B Lamy AU - F Fellmann AU - S E Antonarakis AU - E Plouvier AU - P Herve AU - P Tiberghien Y1 - 1997/01/01 UR - http://jmg.bmj.com/content/34/1/77.abstract N2 - Uniparental isodisomy is defined as the inheritance of two copies of the same parental chromosome and can result in defects when it produces homozygosity for a recessive mutation or in the presence of imprinting. We describe the detection of a chromosome 6 uniparental isodisomy in a 9 year old girl, discovered during a search for an HLA identical sib. HLA typing, erythrocyte phenotyping, and genotypes of microsatellite polymorphisms were compatible with a paternal isodisomy of chromosome 6, with normal biparental origin of the other chromosomes. Paternal cells were not responsive to the patient's cells in mixed lymphocyte cultures. This fortuitous detection of a chromosome 6 isodisomy suggests that cases of chromosome 6 UPD may not be deleterious and may therefore go undetected. ER -