The second case with 47, XY, + 8 [38] / 45, X0 [12] karyotype
Makaleler > Tam Makale · 2002
Yazarlar: Muhsin Özgür ÇOĞULU, Cengiz Tırpan, Feriştah Ferda ÖZKINAY, Cumhur GÜNDÜZ, Cihangir Özkınay
The Turkish Journal of Pediatrics, Uluslararası, 2002, cilt 44, ss 86-89
DOI: 10.24953/turkjpediatr.2002.2947
Özet
Trisomies are the cause of more than 50% of all spontaneous abortions1.In the literature, trisomy 8 is more frequently reported as mosaic cases with normal karyotype2-3.Features of mosaic trisomy 8 show great variability such as mental retardation in 90%, malformed pinnae, and contractures of the fingers and toes in 70%, vertebral anomalies in 55%, (which show progression), as the individual gets older, hypertelorism and strabismus in 50%, broad and upturned nose with anteverted nostrils and high palate in 60%, micrognathia, and everted lower lip in 40%, deep furrows on palms and soles in 75%, urogenital anomalies in 40%, and congenital cardiac anomalies in 25%4-5.