engleski

Outcome of a child with Ring chromosome 18 syndrome

Ring chromosome is structural chromosomal abberation with incidence of 1:50 000 of liveborns. It occurs due to terminal deletion on both chromosomal parts, and then the fusion of rest parts into a ring formation. Until now, there are 70 described cases of Ring cromosome syndrome in literature. The diagnose is often established with delay. He was born from the first pregnancy of non consanguineous parents. Our patient is 11 years old boy with dysmorphic stigmata noticed directly after delivery. He was born in General County Hospital, Požega, Croatia. He was presented with palatoschisis, hypertelorism, lower set ears, short neck, hypospadia, feet malformation and heart murmur. Fallot pentalogy was diagnosed and operated. Further citogenetic analysis established the diagnose of Ring chromosome syndrome: 46xy, r (18), hibridization x, y, numerical adequate. Palatoschisis and feet were operated. He had multiple respiratory infections and was diagnosed as immunodeficiency A. He walked at 6 years of age, but has a psychomotoric retardation and a short stature. He attends a multi-level treatment with speech therapist, psychologist and defectologist. Although patients with Ring chromosome syndrome are mostly diagnosed later in childhood, our patient was diagnosed in early age, in the first months of life, so the treatments of his multiple problems weren't delayed. However, his development is significantly impaired and his congitive functions are much below average.

Sy Ring ; outcome ; development

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