Nadir bir olgu: Trizomi 8 Mozaisizm Sendromu

Abstract

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