Tetragametic chimerism detected in a healthy woman with mixed‐field agglutination reactions in ABO blood grouping

Drexler, Camilla; Glock, B.; Vadon, Maria; Staudacher, Erika; Dauber, E.M.; Ulrich, Silvia; Reisacher, R.B.K.; Mayr, Wolfgang R.; Lanzer, Gerhard

doi:10.1111/j.1537-2995.2005.04304.x

Cited by 37 publications

(25 citation statements)

References 22 publications

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“…In other words, the same reasons we initially failed to detect the B allele from peripheral blood DNA were probably the same reasons we did not detect a double paternal HLA contribution. A similar phenomenon was also reported by Drexler et al (11) in their tetragametic chimera, only a single paternal HLA haplotype was identified, while both maternal haplotypes were present.…”

Section: Discussionsupporting

confidence: 87%

A Dispermic Chimera with Mixed Field Blood Group B and Mosaic 46,XY/47,XYY Karyotype

et al. 2007

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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.

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Section: Discussionsupporting

confidence: 87%

A Dispermic Chimera with Mixed Field Blood Group B and Mosaic 46,XY/47,XYY Karyotype

et al. 2007

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“…Usually, some difficultly in blood grouping leads to additional investigations, and as in this case, further studies have to be performed to confirm evidence of chimerism [10]. Due to the apparent rarity of tetragametic chimerism and the importance of the use of molecular techniques to demonstrate its presence, this condition may be underdiagnosed.…”

Section: Discussionmentioning

confidence: 79%

An unusual observation of tetragametic chimerism: forensic aspects

et al. 2009

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A 41-year-old healthy Caucasian male showed an unidentifiable direct AB0 group and a B group by an indirect method revealing the presence of natural antibodies anti-A1 and anti-A2. Mixed fields with anti-B and anti-A+B antisera led to the conclusion that blood group B and 0 cell populations were present in a 1:1 ratio. A negative anamnesis for both transplantation and transfusion suggested a chimerism. DNA analysis of tissues revealed a tetragametic chimerism due to an apparent double parental contribution of nuclei in a phenotypically normal man.

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“…[6][7][8] A MEDLINE search did not identify reports of cases revealed by abnormal skin pigmentation, although it has been stipulated for years that chimerism could result in abnormal skin pigmentation. 9 Eleven years ago, Happle et al 10 coined the term cutis tricolor to designate hyperpigmented and hypopigmented patches in a boy with multiple other congenital defects.…”

Section: Commentmentioning

confidence: 99%

“…5 Most reported cases of tetragametic chimerism occurring in individuals without sexual ambiguity were detected when blood group screening revealed an unusual phenotype. 6,7 We report the case of a young patient in whom skin pigmentary abnormalities revealed chimerism.…”

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confidence: 99%

Between Light and Dark, the Chimera Comes Out

Lipsker¹,

Flory²,

Wiesel³

et al. 2008

Arch Dermatol

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Tetragametic chimerism detected in a healthy woman with mixed‐field agglutination reactions in ABO blood grouping

Abstract: By investigation of DNA polymorphisms, it was possible to determine a rare case of tetragametic chimerism being the result of double parental contribution of nuclei.

Cited by 37 publications

References 22 publications

A Dispermic Chimera with Mixed Field Blood Group B and Mosaic 46,XY/47,XYY Karyotype

A Dispermic Chimera with Mixed Field Blood Group B and Mosaic 46,XY/47,XYY Karyotype

An unusual observation of tetragametic chimerism: forensic aspects

Between Light and Dark, the Chimera Comes Out

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