Document Detail


Prenatally detected double trisomy: Klinefelter and Down syndrome.
MedLine Citation:
PMID:  16958145     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M Sanz-Cortés; F Raga; A Cuesta; R Claramunt; F Bonilla-Musoles
Related Documents :
15300745 - First-trimester screening for trisomy 21 combining biochemistry and ultrasound at indiv...
17715315 - Sonographic detection of trisomy 13 in the first and second trimesters of pregnancy.
2762235 - Trisomy 12 mosaicism in amniocytes and dysmorphic child despite normal chromosomes in f...
7784375 - Fetal cholecystomegaly: a prenatal marker of aneuploidy.
6440405 - Circulating immune complexes and hypertension in pregnancy.
15589855 - Improved in vitro fertilization embryo quality and pregnancy rates with intracytoplasmi...
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    
Affiliation:
Departamento de Obstetricia y Ginecologia, Hospital Clínico Universitario de Valencia, Spain. magdasanz@hotmail.com
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adult
Down Syndrome / complications,  diagnosis*
Female
Humans
Klinefelter Syndrome / complications,  diagnosis*
Male
Pregnancy
Prenatal Diagnosis*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Prenatal diagnosis of congenital malformations and parental psychological distress--a prospective lo...
Next Document:  Single large study or meta-analysis parameters: choosing the most appropriate tool for Down syndrome...