HUM-MOLGEN DIAGnostics/Clinical Research


amnio report of 46,XY,inv(7)(q21.?2q22.?3)

A friend just got an amnio report of 46,XY,inv(7)(q21.?2q22.?3). Their genetic counselor (accurately) told them the fetus could have Ehlers-Danlos or osteogenesis imperfecta. Level II U/S was normal. Is anyone working with DNA probes to the relevant collagen gene who might be able to offer these nice people a more definitive diagnosis? Also, is it possible to determine actual risks of these disorders when we find out if either parent also has the inversion? MOM lists a similar case where the woman had the inversion too, yet the child still had oi. Thanks. I'm a genetic counselor and textbook author.
Ricki Lewis <76715.3517@COMPUSERVE.COM>