Chimerism resulting from parthenogenetic activation and dispermic fertilization

American Journal of Medical Genetics. Part a
Johanna WinbergAnn Nordgren

Abstract

Whole-body human chimerism is the result of two zygotes giving rise to one individual, and is a rarely detected condition. We have studied the molecular background and discuss the likely mechanism for the chimerism in a patient with a 46,XX/47,XY,+14 karyotype and ambiguous genitalia, cryptorchidism, pigment anomalies, and normal psychomotor development. We have used karyotyping, interphase-FISH and array-CGH analysis as well as molecular analysis of polymorphic markers from 48 loci in order to define the origin and percentage of 47,XY,+14 cells in different tissues. Based on the findings of two paternal alleles and the detection of homozygous maternal alleles without evidence of crossing-over, and the fact that four alleles were never detected, our results indicate that the chimerism in our patient is the result of dispermic fertilization of a parthenogenetically activated oocyte. Our report underlines that cytogenetic findings suggesting mosaicism might actually indicate chimerism as an underlying mechanism in patients. It also highlights the difficulties in predicting the clinical outcome in patients with genetic aberrations in mosaic or chimeric form.

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Citations

Sep 22, 2012·BMC Medical Genetics·Kuei-Fang LeeIngrid Y Liu
Dec 10, 2015·Nature Biotechnology·Vincenzo SenatoreVittorio Sebastiano
Apr 25, 2013·American Journal of Medical Genetics. Part a·Johanna WinbergPeter Gustavsson
Apr 18, 2019·Andrologia·Mahshad MagharehabedMehdi Totonchi
Apr 19, 2013·Nature Reviews. Genetics·Leslie G Biesecker, Nancy B Spinner
Nov 12, 2019·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Yuanyuan YeYouzhu Li
Dec 15, 2019·Molecular Genetics & Genomic Medicine·Johanna WinbergAgneta Nordenskjöld

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