Document Detail


Down-Turner syndrome: case report and review.
MedLine Citation:
PMID:  7837259     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We present a male patient with Down-Turner mosaicism (45,X/46,X,+21/47,XY,+21) and review 27 similar cases reported so far. Clinical features of Down's syndrome were present in all cases, whereas a combination of features of both Ullrich-Turner syndrome and Down's syndrome was reported in 61% of the patients. However, one has to bear in mind that several stigmata of Ullrich-Turner syndrome can also be present in patients with Down's syndrome and vice versa. In most of the patients two different cell lines were encountered, although cases with one, three, and even four different cell lines have been reported. Of 28 patients, 21 showed female external genitalia, four were phenotypically male, and three showed ambiguous genitalia. Only six patients (21%) carried a Y chromosome, which is far less than expected.
Authors:
G J Van Buggenhout; B C Hamel; J C Trommelen; H Mieloo; D F Smeets
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Journal of medical genetics     Volume:  31     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1994 Oct 
Date Detail:
Created Date:  1995-02-24     Completed Date:  1995-02-24     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  807-10     Citation Subset:  IM    
Affiliation:
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Chromosome Banding
Down Syndrome / genetics*
Female
Genitalia, Female
Humans
Lymphocytes / pathology
Male
Middle Aged
Mosaicism
Noonan Syndrome / genetics*
Phenotype
X Chromosome*
Y Chromosome*
Comments/Corrections

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


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