Document Detail

A healthy, female chimera with 46,XX/46,XY karyotype.
MedLine Citation:
PMID:  19344081     Owner:  NLM     Status:  MEDLINE    
We report a healthy and unambiguously female newborn, whose phenotypic sex contradicted the expected male sex based on previously performed prenatal cytogenetic analysis. Both 46,XX and 46,XY cells were detected in a villus sample, the former having been attributed to maternal cell contamination. Postnatal karyotyping in peripheral lymphocytes confirmed the presence of two cell lines, one 46,XX (70%) and one 46,XY (30%). After exclusion of alternative explanations for the observed genotype, a diagnosis of chimerism was made. Chimeras containing cell lines of opposite sex usually feature ovotesticular development with associated genital ambiguity. To account for the normal female appearance of our patient, we postulate the exclusive involvement of 46,XX cells in gonad formation.
Mathijs Binkhorst; Nicole de Leeuw; Barto J Otten
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  22     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2009 Jan 
Date Detail:
Created Date:  2009-04-06     Completed Date:  2009-06-17     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  England    
Other Details:
Languages:  eng     Pagination:  97-102     Citation Subset:  IM    
Departments of Neonatology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
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MeSH Terms
Chimera / genetics,  physiology*
Chromosome Aberrations*
Chromosome Banding
Gonadal Dysgenesis, Mixed / genetics*,  physiopathology
Infant, Newborn
Sex Chromosome Aberrations*

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