A further case of monosomy 10qter.
A child with a terminal deletion of chromosome 10 (q26) is described. A comparison of the phenotypic and cytogenetic features is made in the five reported cases of monosomy 10qter. No phenotypic features are found sufficiently characteristic to delineate a syndrome. Enzymatic activities for PGAMA and GOT1 were normal.
D001219:Aspartate Aminotransferases / Q000378:metabolism; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D002658:Developmental Disabilities / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D010736:Phosphoglycerate Mutase / Q000378:metabolism
D001219:Aspartate Aminotransferases; D010736:Phosphoglycerate Mutase