Autosomal imbalance syndromes: genetic interactions and the origin of congenital malformations in aneuploidy syndromes.
In some autosomal imbalance syndromes an additional imbalance interferes with the occurrence of the anomalies typical of the syndrome itself. For example, polydactyly was found in patients with "pure" del(3p) more frequently (11/23) than in patients where these deletions were associated with different partial trisomies (2/28). The opposite situation was shown in del(7q) syndrome where various defects of the holoprosencephalic group were found to be rarer in patients with "pure" deletions, than in cases with simultaneous occurrence of various partial trisomies. It suggests the importance of gene interaction in determining the phenotypic picture of autosomal imbalance syndromes.
Lurie
I W
IW
Department of Pediatrics, School of Medicine, University of Maryland at Baltimore.
D000782:Aneuploidy; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002893:Chromosomes, Human, Pair 3 / Q000648:ultrastructure*; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure*; D005819:Genetic Markers; D016142:Holoprosencephaly / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D017689:Polydactyly / Q000235:genetics
D005819:Genetic Markers