title: A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype.
abstract: Chimerism in humans is a rare phenomenon often initially identified in the resolution of an ABO blood type discrepancy. We report a dispermic chimera who presented with mixed field in his B antigen typing that might have been mistaken for the B3 subtype. The propositus is a healthy Korean male blood donor. Neither his clinical history nor initial molecular investigation of his ABO gene explained his mixed field agglutination with murine anti-B. Chimerism was suspected, and 9 short tandem repeat (STR) loci were analyzed on DNA extracted from blood, buccal swabs, and hair from this donor and on DNA isolated from peripheral blood lymphocytes from his parents. The propositus' red blood cells demonstrated mixed field agglutination with anti-B. Exon 6 and 7 and flanking intronic regions of his ABO gene were sequenced and revealed an O01/O02 genotype. B allele haplotype-specific PCR, along with exon 6 and 7 cloning and sequencing demonstrated a third ABO allele, B101. Four STR loci demonstrated a pattern consistent with a double paternal chromosome contribution in the propositus, thus confirming chimerism. His karyotype revealed a mosaic pattern: 32/50 metaphases were 46,XY and 18/50 metaphases demonstrated 47,XYY.
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Hospital & Medical School, 8 Hark-dong, Dong-gu, Gwangju, Korea.
authors.forename: Duck
authors.initials: D
authors.lastname: Cho
authors.forename: Sang Ku
authors.initials: SK
authors.lastname: Lee
authors.forename: Mark Harris
authors.initials: MH
authors.lastname: Yazer
authors.forename: Myung Geun
authors.initials: MG
authors.lastname: Shin
authors.forename: Jong Hee
authors.initials: JH
authors.lastname: Shin
authors.forename: Soon Pal
authors.initials: SP
authors.lastname: Suh
authors.forename: Jeong Won
authors.initials: JW
authors.lastname: Song
authors.forename: Mee Jeong
authors.initials: MJ
authors.lastname: Jeon
authors.forename: Ji Young
authors.initials: JY
authors.lastname: Kim
authors.forename: Jong Tae
authors.initials: JT
authors.lastname: Park
authors.forename: Dong Wook
authors.initials: DW
authors.lastname: Ryang
mesh_terms: D000017:ABO Blood-Group System; D000328:Adult; D000483:Alleles; D001788:Blood Grouping and Crossmatching; D002678:Chimera; D046528:Chimerism; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D007723:Korea; D008297:Male; D010641:Phenotype; D017422:Sequence Analysis, DNA; D014997:XYY Karyotype
chemical_list: D000017:ABO Blood-Group System