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J Pediatr Genet 2012; 01(03): 205-208
DOI: 10.3233/PGE-2012-032
DOI: 10.3233/PGE-2012-032
Cytogenetic and clinical features of a 13 year old male with trisomy 8
Verantwortlicher Herausgeber dieser Rubrik:
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Publikationsverlauf
14. November 2011
30. Dezember 2011
Publikationsdatum:
27. Juli 2015 (online)

Abstract
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.