Partial deletion of the short arm of chromosome 12(p11; p13). Report of a case.
Chromosome analysis of a 15-day old boy with multiple malformations revealed a partial deletion 12(p11;p13).
D000015:Abnormalities, Multiple / Q000235:genetics; D001017:Aortic Coarctation / Q000235:genetics; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D003878:Dermatoglyphics; D006333:Heart Failure / Q000235:genetics; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D007770:L-Lactate Dehydrogenase / Q000032:analysis; D007962:Leukocytes / Q000648:ultrastructure; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics
D007770:L-Lactate Dehydrogenase