Guest guest Posted March 23, 2000 Report Share Posted March 23, 2000 The original chromosomal testing done to diagnose in the hospital after they were born showed only trisomy 21. Our doctor said that if it were translocation, they would have showed it on the original testing. Actually his test was sent to a state lab to be diagnosed and they did ask for testing to be done on his brother. The neonatologist assumed at the time that that meant we did have the translocation, so until we went to the geneticist we thought we were all going to be tested to see who was the carrier. It turned out that the state was just doing a study on twins/DS and only wanted tested for that (no thanks!)and there had been a miscommunication. The geneticist called the lab directly to clarify and we don't have translocation. It is just a conincidental thing in my husband's family. In a message dated 3/19/00 2:40:52 PM Eastern Standard Time, cabevizzo@... writes: << . I think there must be some connection, but the doctors tell me it's just coincidence and everything I've read says the same. Maybe they'll discover some connection in future research. >> HAS ANYONE ACTUALLY BEEN TESTED TO SEE IF THEY ARE A CARRIER? BECAUSE OUR FAMILY HAS TWO WITH DS, MOST OF US HAVE NOW BEEN TESTED TO CHECK OUT OUR GENES....MY HUSBANDS AND DAUGHTER'S WERE FINE, BUT...I, THE MOM, AM A CARRIER. MY GENES ARE A BALANCED TRANSLOCATION, BUT THERE IS A 50/50 CHANCE THAT EACH OF MY CHILDREN COULD BE CARRIERS. MY DAUGHTER IS OK BUT TWO OF OUR OTHER BOYS HAVE NOT YET BEEN TESTED DR. LEICHTMAN EXPLAINED TO US THAT AS A CARRIER, WITH EACH PREGNANCY ONE OF FOUR SITUATIONS WILL HAPPEN...I WILL MISCARRY, OR I WILL HAVE A CHILD WITH DS, OR I WILL HAVE A NORMAL CHILD, OR I WILL HAVE A NORMAL CHILD WHO IS A CARRIER. I HAVE INDEED HAD 3 MISCARRIAGES, 2 WITH DS, AND 3 OTHER NORMAL CHILDREN WHO HAVE NOT ALL BEEN TESTED YET. SO, HAVE ANY OF THE REST OF YOU WITH MORE THAN ONE DS CHILD BEEN TESTED? PEGGY....PLEASE FORGIVE THE CAPITAL LETTERS, I WAS HOLDING A SLEEPY BABY AND TRYING TO TYPE SO ALL CAPS HELPED! ____________________________________________________________________ Get your own FREE, personal Netscape WebMail account today at http://webmail.netscape.com. Quote Link to comment Share on other sites More sharing options...
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