Mosaic or chimera? Revisiting an old hypothesis about the cause of the 46,XX/46,XY hermaphrodite

The Journal of Pediatrics
Dau-Ming NiuMing-yi Chung

Abstract

A cell lineage in a hermaphrodite infant showing a 46,XX/46,XY karyotype was analyzed to determine the genetic contribution from both parents and identify the underlying mechanism. Genotype analysis was performed by using 57 microsatellite markers, 39 distributed on 9 autosomes and 18 on the X-chromosome. Two X- and Y-specific markers were analyzed to confirm the presence and percentages of cells containing a Y-chromosome. The proband revealed a single maternal and paternal allele for all of the informative autosomal and X-chromosome markers. Analysis of the X- and Y-specific markers confirmed that approximately 20% of the patient's peripheral blood cells contained the Y chromosome. The data suggest that the patient's hermaphroditism was the result of a mosaic embryo and not a chimera. The most likely mechanism involved 2 separate nondisjunction events, resulting in the loss of 47,XXY cells during early embryonic development.

Citations

Aug 29, 2018·Transfusion·Robert E Wenk
Oct 10, 2006·Clinical Genetics·V MalanC Turleau
Dec 14, 2006·Human Genetics·Vivienne L SouterGrant W Montgomery
Jun 18, 2005·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Catherine GuettierCyrille Féray
Aug 31, 2010·American Journal of Medical Genetics. Part a·Johanna WinbergAnn Nordgren
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