[Balanced translocation 8:10 and adrenogenital syndrome. Family study (author's transl)].
An 8:10 translocation was found in a 15-day-old female child affected with adrenogenital syndrome. Some other members of the family also showed the same chromosomal anomaly. By G-, Q- and T-banding, break and fusion points were determined at the level of 8q21 and 10q24 bands. The hormone and enzymatic tests carried out in all the members of the family revealed a 21-hydroxylase deficiency only in the proposita. Possible relationship between the manifestation of syndrome and chromosomal anomaly are discussed.
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D006899:Mixed Function Oxygenases / Q000172:deficiency; D014178:Translocation, Genetic
D006899:Mixed Function Oxygenases
Translocación recíproca 8:10 y síndrrome adrenogenital. Estudio familiar.