46,XX,-12,+der(12),rcp(3;12)(p25.1;p13.31)pat karyotype in a girl. Probable subregional assignment of glyceraldehyde-3-phosphate dehydrogenase locus to 12p13.1----p13.31 by exclusion mapping.
A female infant with partial trisomy 3p and a terminal deletion 12p, due to a paternal (3;12)(p25.1;p13.31) translocation is described. Normal glyceraldehyde-3-phosphate (GAPD) activity in the proposita tentatively excludes GAPD locus from the deleted segment. Therefore, the region for this locus is reduced to 12p13.1----p13.31.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002900:Chromosomes, Human, 1-3; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005985:Glyceraldehyde / Q000031:analogs & derivatives*; D005986:Glyceraldehyde 3-Phosphate / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D011596:Psychomotor Disorders / Q000235:genetics; D014178:Translocation, Genetic; D014314:Trisomy
D005986:Glyceraldehyde 3-Phosphate; D005985:Glyceraldehyde