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Prenatal Diagnosis of an Autosomal Translocation with Regular Trisomy 21.
MedLine Citation:
PMID:  23301917     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
The coincidence of trisomy 21 and a structural rearrangement is very rare, and even it has not been reported as a prenatal diagnosis yet. In this article, we present an autosomal translocation carrier fetus with trisomy 21: 47,XX,+21, t(3;8)(p21;q24). Although the coincidence of reciprocal translocation and trisomy may be seen in reciprocal translocation carrier families, de novo cases are extremely rare. The presented case is diagnosed by amniocentesis, which was performed because of abnormal fetal ultrasonographic findings and increased trisomy 21 risk at maternal serum screening test. The postmortem pathologic examination of the fetus revealed that the findings of hypertelorism and right lung with two lobes are interesting novel findings of our cases associated with the breakpoints 3p21 and 8q24.
Authors:
Yusuf Tunca; M Salih Deveci; Altug Koc; Halide Kaya; Ibrahim Alanbay; Hakan Coksuer; Murat Dede
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-10
Journal Detail:
Title:  Fetal and pediatric pathology     Volume:  -     ISSN:  1551-3823     ISO Abbreviation:  Fetal Pediatr Pathol     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101230972     Medline TA:  Fetal Pediatr Pathol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Department of Medical Genetics and.
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