[Linkage between the gene responsible for adrenal hyperplasia caused by 21-hydroxylase deficiency and chromosome-6 short-arm markers].
In six patients from four different families, the study of the genetic markers of te short arm of chromosome 6 allows to confirm the situation of the gene responsible for congenital adrenal hyperplasia by deficiency of 21 hydroxylase. Thanks to the discovery of a recombination of the maternal haplotype in an affected girl. we consider the situation of the pathological gene with regard to that of the glyoxalase I gene. In the families including at least one patient, these studies permit to tract the heterozygotes and to make a very early or even antenatal diagnosis.
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000328:Adult; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers; D006801:Humans; D008297:Male
D005819:Genetic Markers
Liaison entre le gène responsable de l'hyperplasie surrénalienne par déficit en 21 hydroxlase et les marqueurs de bras court du chromosome 6.