Cytogenetic and clinical features of a 13 year old male with trisomy 8

Autor:	Emin Kapi, Mehmet Fidanboy, Selcuk Otcu, Cihan Akgul Ozmen, Mahmut Balkan, Turgay Budak, M. Nuri Özbek
Rok vydání:	2015
Předmět:	Genetics Pediatrics medicine.medical_specialty Skeletal anomalies business.industry medicine.disease Trisomy 8 Article Miscarriage Speech problems Pediatrics Perinatology and Child Health Chromosomal Abnormality medicine business Genetics (clinical)
Zdroj:	Journal of Pediatric Genetics. :205-208
ISSN:	2146-460X 2146-4596
DOI:	10.3233/pge-2012-032
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1fe30d5bca256d2f0dbf774dc99fa32 https://doi.org/10.3233/pge-2012-032 Zobrazit plný text záznamu