Re: Cataran's Disease

From: ATB28@aol.com
Thu May 13 08:43:30 1999


In a message dated 5/13/1999 6:36:05 AM Pacific Daylight Time, saszabo@sprintmail.com writes:

<< nterestingly, The patient is not Jewish, but the story comes out that her husband is Jewish and his sister has Canavan's Disease. This couple has never had testing in the past

Stephen A. Szabo, MD, FACOG >>

The carrier frequency for Canavan's is ~1/40 in the Jewish population; however, since the FOB's sister had the disorder, the likelihood of him being a carrier is 2/3.

Heterozygote testing is available on a molecular basis - this couple should be referred for genetic counseling when carrier testing can be further discussed, and prenatal diagnosis (if elected) arranged.

Allan Bombard, MD Oakland, CA





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