Cytogenetic and clinical features of a 13 year old male with trisomy 8
[ X ]
Tarih
2012
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Georg Thieme Verlag Kg
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Trisomy 8, Skeletal Anomalies, Restricted Articular Function, Chromosome
Kaynak
Journal of Pediatric Genetics
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
1
Sayı
3
