[A new case of partial monosomy of chromosome 12,del(12)(p11.01 to p12.109) confirming the location of the gene for lactate dehydrogenase B].
A new case of partial monosomy of the short arm of chromosome 12 is described in a 17-year-old girl and compared with other observations reported in the literature. The breakpoints were localized to region 12p11----12p.12.1. Qualitative and quantitative activity of LDHB allowed a precise assignment of the structural gene to sub-band 12p12.2.
D000293:Adolescent; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005796:Genes; D006801:Humans; D007527:Isoenzymes; D007621:Karyotyping; D007770:L-Lactate Dehydrogenase / Q000235:genetics*; D009006:Monosomy
D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase
Etude d'un nouveau cas de monosomie partielle du chromosome 12,del(12)(p11.01----p12.109) confirmant la localisation du gène de la lactico-déshydrogénase B.