Document Detail

Detection of increased gene copy number in DNA from dried blood spot samples allows efficient screening for Klinefelter syndrome.
MedLine Citation:
PMID:  22928958     Owner:  NLM     Status:  Publisher    
47,XXY Klinefelter syndrome (KS) is the most common sex chromosome disorder affecting 1 in 660 newborn boys (1). Adolescent and adult patients with KS are characterised by hypergonadotropic hypogonadism, tall stature with eunuchoid body proportions, increased truncal fat and small testes, whereas no specific clinical or physical hallmarks have been identified at birth or during infancy and childhood (2;3). However, the adult phenotype varies greatly, and the symptoms of KS are not exclusive, and, possibly therefore, the syndrome is highly underdiagnosed. © 2012 The Author(s)/Acta Paediatrica © 2012 Foundation Acta Paediatrica.
L Aksglaede; Id Garn; Mv Hollegaard; Dm Hougaard; E Rajpert-De Meyts; A Juul
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-8-28
Journal Detail:
Title:  Acta paediatrica (Oslo, Norway : 1992)     Volume:  -     ISSN:  1651-2227     ISO Abbreviation:  Acta Paediatr.     Publication Date:  2012 Aug 
Date Detail:
Created Date:  2012-8-29     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9205968     Medline TA:  Acta Paediatr     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 The Author(s)/Acta Paediatrica © 2012 Foundation Acta Paediatrica.
Department of Growth and Reproduction Rigshospitalet, Faculty of Health Sciences, University of Copenhagen, Denmark Section of Neonatal Screening and Hormones Statens Serum Institut Copenhagen, Denmark.
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