Chimerism 46,XX/46,XY in a phenotypic female

  title={Chimerism 46,XX/46,XY in a phenotypic female},
  author={A. Gen{\vc}{\'i}k and A. Gencikova and M. Hrubi{\vs}ko and O. Mergancov{\'a}},
  journal={Human Genetics},
SummaryA female patient is reported with lymphocyte chromosome chimerism (46,XX/46,XY). Her whole-body chimerism was confirmed in the AB0 blood group system by the presence of two different erythrycyte populations, A10 and 00. Normal findings were recorded at physical and gynecological examination, except for mammary hypoplasia and sterility of 7 years duration, the latter complaint being the cause for genetic examination of the patient. 
A Healthy, Female Chimera with 46,XX/46,XY Karyotype
A healthy and unambiguously female newborn, whose phenotypic sex contradicted the expected male sex based on previously performed prenatal cytogenetic analysis, is reported, and the exclusive involvement of 46,XX cells in gonad formation is postulated. Expand
46,XX/46,XY chimerism in a phenotypically normal man
It is concluded that a positive X-chromatin in prepuperty, especially in the absence of supporting clinical features, must be followed by a karyotype study. Expand
High‐level 46XX/46XY chimerism without clinical effect in a healthy multiparous female
Normal fertility and the presence of female offspring are unique findings in this case and raises the possibility that chimerism with a normal phenotype may be an underappreciated outcome even in the absence of sex chromosome discordance. Expand
[Blood cell chimerism in dizygotic twins conceived by in vitro fertilization].
Blood chimerism was confirmed by performing FISH on the buccal cells of the patients and microsatellite analyses of blood DNA revealed tetra-allelic contribution at some autosomal loci with similar proportions of maternal and paternal alleles and X/Y chromosome dose. Expand
Blood chimerism in a dizygotic dichorionic pregnancy.
This is a rare case of blood chimerism in dichorionic placentas, in contrast to those in monochorionicPlacenta, where the female twin was delivered at 34 weeks of gestation, and the male twin was stillborn. Expand
Possible human chimera detected prenatally after in vitro fertilization: a case report
Chimerism is the coexistence of more than one cell line in an individual, due to the fusion of originally separate zygotes. It has been very rarely described in humans.
Natural human chimeras: A review.
  • K. Madan
  • Medicine, Biology
  • European journal of medical genetics
  • 2020
If human chimeras are more common than hitherto thought there could be many medical, social, forensic, and legal implications, and more multidisciplinary research is required. Expand
Quimerismo hemático en gemelos dicigóticos concebidos por fertilización in vitro
Los estudios de FISH confirmaron la presencia del gen SRY en las celulas 46,XY, y dosis cromosomica X/Y sugerente de proporcion identica de celulas sanguineas nucleoladas quimericas. Expand


A case of twin chimerism.
A case of twin chimerism is presented and shown by cytogenetic studies, red cell grouping, and white cell HL-A typing and their chimeric state is confirmed by non-reactivity in the mixed lymphocyte culture system. Expand
XX/XY chromosomal mosaicism presenting a chordee without hypospadias associated with scrotal transposition.
This is the first case of XX/XY mosaicism presenting a chordee without hypospadias associated with scrotal transposition. Expand
True hermaphroditism and chimerism. A case report.
A case of true hermaphroditism is reported with feminine habitus, ovotestis, and XX/XY cell admixture, and diagnosis of the existence of two cell lines was enhanced by the use of the quinacrine mustard fluorescent technique. Expand
Human Cytogenetics, vol II
  • 1971