OBJECTIVES: 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. STUDY DESIGN: 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. RESULTS: 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. CONCLUSIONS: 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.
OBJECTIVES: A cell lineage in a hermaphroditeinfant showing a 46,XX/46,XY karyotype was analyzed to determine the genetic contribution from both parents and identify the underlying mechanism. STUDY DESIGN: 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. RESULTS: 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. CONCLUSIONS: 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.
Authors: Yolande van Bever; Katja P Wolffenbuttel; Hennie T Brüggenwirth; Eric Blom; Annelies de Klein; Bert H J Eussen; Florijn van der Windt; Sabine E Hannema; Arianne B Dessens; Lambert C J Dorssers; Katharina Biermann; Remko Hersmus; Yolanda B de Rijke; Leendert H J Looijenga Journal: Sex Dev Date: 2017-09-20 Impact factor: 1.824
Authors: Vivienne L Souter; Melissa A Parisi; Dale R Nyholt; Raj P Kapur; Anjali K Henders; Kent E Opheim; Daniel F Gunther; Michael E Mitchell; Ian A Glass; Grant W Montgomery Journal: Hum Genet Date: 2006-12-13 Impact factor: 4.132