RESUMEN
We report a male infant who has impaired penile development, hypospadias, and mild developmental delay with a 46,XY,t(1;18)(q32.1;q22.1) karyotype. Fluorescent in situ hybridization (FISH) was performed to more precisely map the translocation breakpoint. The translocation breakpoint maps to a region that has been implicated in genitourinary malformations in the 18q- syndrome. This case report suggests that a gene involved in genitourinary development maps at or near the chromosome 18 translocation breakpoint.
Asunto(s)
Cromosomas Humanos Par 18/genética , Cromosomas Humanos Par 1/genética , Anomalías Urogenitales/genética , Humanos , Hibridación Fluorescente in Situ , Lactante , Cariotipificación , Masculino , Translocación Genética , Anomalías Urogenitales/patologíaRESUMEN
We report a case of amyloidosis associated with K light chain multiple myeloma in a 42-year-old African American man. The patient initially had mild dyspepsia, which rapidly progressed to include anorexia, fulminant hepatic failure, and death within 9 weeks. This is only the fourth reported case of hepatic failure from myeloma-associated amyloidosis and the second reported case of light chain myeloma with amyloidosis resulting in a progressive clinical course of hepatic failure. Our patient was unique in that, despite severe disease, he had mild symptoms without laboratory abnormalities until 2 weeks prior to death.