Nadir bir olgu: Trizomi 8 Mozaisizm Sendromu

Trisomy 8 mosaicism syndrome (T8MS ) is a rare chromosome disorder caused by the presence of extra in some cells body. T8MS clinically variable condition associated with number developmental abnormalities. We report dysmorphic features and congenital anomalies. A 3.5-month-old boy was referred to genetic department because his atypical facial appearance. Physical examination revealed microcephaly, hypertelorism, flattened nasal root, deeply located eyes, strabismus, dysplastic ears, cleft palate, deep hand foot lines, camptodacty hypotonicity. He had additional anomalies such as hearing loss, peripheral cataract left eye, bilateral advanced vesicoureteral reflux, corpus callosum dysgenesis. Chromosome analysis trisomy (47,XY,+8[11]/46,XY[39]). Mosacism also confirmed fluorescence situ hybridization analysis.T8MS quite heterogeneous frequently dysmorphism, urogenital abnormalities, agenesis camptodacty. Deep lines are very characteristic for T8MS. Our patient related previously reported literature. Correlation abnormalities clinical phenotype always important diagnosis syndromes. In conclusion, chromosomal should be considered differential patients accompanied multiple cytogenetic studies sholud performed first.