RESUMO
Partial trisomy of the long arm of chromosome 5 distal to 5q33 is rare. Only 16 cases have so far been reported. We report on a three-year-old boy with microcephaly, growth and developmental delay, mild mental retardation, and facial dysmorphism caused by partial 5q trisomy and partial 7p monosomy. The patient has an apparently unbalanced translocation resulting from a rearrangement between chromosomes 5 and 7 (46,XY,der (7)t (5;7) (q33;p22)de novo). Fluorescence in situ hybridization with chromosome 5 and 7 painting probes and a cri-du-chat critical region probe confirmed this chromosome rearrangement. Most cases of partial trisomy 5q33-q35 described to date are due to the unbalanced transmission of a familial translocation. To the best of our knowledge, there are no previous reports of de novo unbalanced translocations of these two chromosome abnormalities together with similar breakpoints.
Assuntos
Humanos , Masculino , Braço , Aberrações Cromossômicas , Deleção Cromossômica , Cromossomos Humanos Par 5 , Fluorescência , Crescimento e Desenvolvimento , Hibridização In Situ , Deficiência Intelectual , Microcefalia , Monossomia , Pintura , Pinturas , TrissomiaRESUMO
A 4-year-old girl developed acute motor, sensory impairment, lower abdominal pain and urinary dysfunction after URI. In acute stage of disease, MRI showed diffuse spinal cord swelling and high signal intensity on T2WI below T2 body level. The patient did not improved and one month later, follow-up MRI showed diffuse spinal cord atrophy and syrinx formation as sequelae of ATM on T1WI below T9 level. To our knowledge, this is the first case showing the sequelae of acute transverse myelitis seen in Korea.