Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome
Tóm tắt
Fluorescence in situ hybridization analysis was performed to characterize a complex pericentric inversion involving chromosome 5 in a mother and son. The mother had hypertelorism, epicanthal folds, and mild mental deficiency while the son had additional anomalies that have been observed in patients with cri-du-chat syndrome. Both individuals were found to have an identical double pericentric inversion [inv5(p15.1g31(inv5(p14q12)))]. Neither inversion breakpoint mapped near the chromosomal regions implicated in the cri-du-chat syndrome. The phenotype of the son suggests that the inversion process may have affected the expression of some of the cri-duchat syndrome genes, suggestive of a genomic imprinting or penetrance effect.
Tài liệu tham khảo
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