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10.3233/PGE-2012-032

http://scihub22266oqcxt.onion/10.3233/PGE-2012-032
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C5020943!5020943!27625824
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suck abstract from ncbi


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pmid27625824      J+Pediatr+Genet 2012 ; 1 (3): 205-8
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  • Cytogenetic and clinical features of a 13 year old male with trisomy 8 #MMPMID27625824
  • Balkan M; Fidanboy M; Özmen C; Özbek MN; Otçu S; Kap? E; Budak T
  • J Pediatr Genet 2012[Sep]; 1 (3): 205-8 PMID27625824show ga
  • Trisomy 8 is a relatively rare chromosomal abnormality. The majority of cases present with the mosaic form. Regular trisomy 8 is usually lethal and frequently results in miscarriage, while those with ?trisomy 8 mosaicism? are more likely to survive. We report clinical observations and cytogenetic studies of a 13-year-old male with regular trisomy 8 and compared with those of other known cases of trisomy 8. The most discriminating findings for this condition are skeletal anomalies, restricted articular function, and speech problems. Our results are in agreement with those of previous studies for trisomy 8.
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