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DGAP Case # 045
NIGMS CCR Cell Line #
Karotype46,XX,t(2;7)(q37.2;q36.3)
Age 
Phenotypic Sex 
Race 
PhenotypeRedundant skin, complete tissue syndactyly of the hands and feet, hirsutism, polycystic ovaries and bilateral anterior chamber eye anomalies. Son with unbalanced der(2) has same clinical features plus complex congenital heart malformation, post axial polydactyly, hypotonia and global developmental delay
PubMed Link
Detailed Summary
Contact Investigator Cynthia Morton
Other Data