Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH-B gene dosage effect.
A fetus with tetrasomy for the short arm of chromosome 12 due to a de novo accessory isochromosome i(12p) is described. Involvement of the 12p in this chromosome aberration was suggested by banding analysis and substantiated by detection of a marked increase of LDH-B in the fetal fibroblasts. The syndrome shown by this fetus includes many of the minor anomalies described for live-born patients with partial trisomy 12p, and in addition malformations including brachymelia, anal atresia and double kidneys.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000032:Abortion, Therapeutic; D001842:Bone and Bones / Q000002:abnormalities; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002881:Chromosomes, Human, Pair 12 / Q000648:ultrastructure*; D005260:Female; D005333:Fetus / Q000473:pathology; D005347:Fibroblasts / Q000201:enzymology; D005819:Genetic Markers; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000235:genetics*; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities; D014551:Urinary Tract / Q000002:abnormalities
D005819:Genetic Markers; D007770:L-Lactate Dehydrogenase