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To: Multiple recipients of list HUM-MOLGEN <HUM-MOLGEN@NIC.SURFNET.NL> Subject: DIAG: From: Carlo Gambacorti <GAMBACORTI@icil64.cilea.it> Date: Wed, 24 May 1995 09:31:27 MET-DST
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HUM-MOLGEN DIAGnostics/Clinical Research
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This DIAG message contains 1 submessage:
1) fragile sites and breakage in amnio
Carlo Gambacorti MD, Editor,
Human Molecular Genetics network
Diagnostics/Clinical Research Section
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We analyzed a maternal age amnio grown in a routine, supplimented amniocyte
media in which 80% of cells were 46,XX, 10% were 46,X,del(X)(p22) and the
remainer showed expression of the fragile site at Xp22. While it seems
likely that the cells with the deletion are the result of in vitro expression
of the fragile site, we still have some concerns about counselling the
parents (fragile site studies on them are in progress). We are curious if
anyone else has had a similar case, and what the outcome was.
Rhona Schreck, Ph.D
Director of Cytogenetics.
Cedars Sinai Medical Center
Los Angeles, California
rschreck@mailgate.csmc.edu
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