Document Detail

Prenatally detected double trisomy: Klinefelter and Down syndrome.
MedLine Citation:
PMID:  16958145     Owner:  NLM     Status:  MEDLINE    
Double trisomies are a rare occurrence. We report the first case of a Down and Klinefelter's syndrome (48,XXY,+21) in a fetus that was prenatally diagnosed during the 15th week of pregnancy. Even though the nasal bone was present, and the color-Doppler study of the ductus venosus and the nuchal thickness were normal, the maternal serum test results indicated an increased risk of Down syndrome and consequentially a genetic amniocentesis was performed. A 48,XXY,+21 karyotype was observed and the patient decided to terminate the pregnancy. In this case, we did not find the typical ultrasound (US) signs that would have led us to the chromosomopathy; furthermore, we emphasize the advantages of using biochemical screening which, in our case, were crucial in arriving at the correct diagnosis.
M Sanz-Cortés; F Raga; A Cuesta; R Claramunt; F Bonilla-Musoles
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  26     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2006 Nov 
Date Detail:
Created Date:  2006-11-06     Completed Date:  2007-02-27     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  1078-80     Citation Subset:  IM    
Departamento de Obstetricia y Ginecologia, Hospital Clínico Universitario de Valencia, Spain.
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MeSH Terms
Down Syndrome / complications,  diagnosis*
Klinefelter Syndrome / complications,  diagnosis*
Prenatal Diagnosis*

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