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Klinefelter twins presenting with discordant aneuploidies, acardia, forked umbilical cord and with different gonadal sex despite monozygosity.
MedLine Citation:
PMID:  22418962     Owner:  NLM     Status:  In-Data-Review    
OBJECTIVE: A higher frequency of twin births in sibships of Klinefelter syndrome patients and also monozygotic or dizygotic twins, themselves being affected by Klinefelter syndrome have been noted repeatedly. To address this issue, we evaluated type and frequency of twinning among Klinefelter fetuses that we had received for autopsy within a 'Prenatal Diagnosis' program.
METHOD: We performed fetal autopsies, and genetic analyses on DNA extracted from stained histological slides.
RESULTS: Among 41 prenatal diagnoses of a 47, XXY karyotype we observed four twin pairs. One was dizygotic with discordant Klinefelter and Down syndrome. Three twin pairs were monozygotic as concluded from monochorial placentation. In two monozygotic pairs one twin partner was an acardiac monster and in one of these the acardiac twin showed a female gonadal sex and missing Y-chromosomal SRY-sequences as confirmed by polymerase chain reaction.
CONCLUSIONS: There is a high rate of twinning and twin reversed arterial perfusion sequence among our Klinefelter fetuses. Forked umbilical cords at the placental insertion site in one case allowed classification as conjoined twins in the sense of a 'funiculopagus'. Anaphase lagging or semidizygosity by second polar body twinning are proposed as explanations for the gonadal sex discordance and the excessive developmental disadvantage in the one acardiac. Problems may arise with regard to non-invasive prenatal diagnosis of aneuploidies in twin pregnancies. © 2012 John Wiley & Sons, Ltd.
Helga Rehder; Katharina Schoner; Britta Kluge; Frank Louwen; Eberhard Schwinger; Juergen Neesen
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  32     ISSN:  1097-0223     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2012 Feb 
Date Detail:
Created Date:  2012-03-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  173-9     Citation Subset:  IM    
Copyright Information:
© 2012 John Wiley & Sons, Ltd.
Institute of Medical Genetics, Medical University Vienna, Austria; Institute of Pathology, Philipps-University Marburg, Germany.
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