Guest guest Posted November 11, 1999 Report Share Posted November 11, 1999 Hi, Katy: Our test was done in Canada and it took about 6 - 9 months before we got the results. Good luck with this! Oh, and by the way, turned out negative (no big surprise there, huh! ha. ha.) Stacie 's Mommy katy badt-frissora wrote: > > > Hi Everyone, > > If your child has had the test for parental unisomy of Chromosome #7 (where both > #7 chromosomes come from one parent...10-15% of RSS kids display this, so a > negative result doesn't really mean anything)..... > > anyway, as I was saying, if your child has had this test, could you please send > me the name of the lab that conducted the test. CHOP docs are now telling me > that I will be lucky if the Toronto lab will get the results back to us in a > year. It is completely dependent on the schedule of the lab workers and > students, since this is just research for them. > > I am frustrated and want to find other labs that might do this test. If the > test comes out negative, it doesn't really change things, but if it comes out > positive, then it would really influence our decision to put on GHT. > > Thanks! > Katy > Mom to , 35 months, 26 pounds, 35 " , zantac, periactin > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 11, 1999 Report Share Posted November 11, 1999 Hi Katy and everyone!! As we also went through Children's Hospital of Philadelphia (CHOP), I'm pretty sure Jake's and our blood samples were sent to the same lab (as yours) in Canada for the uniparental disomy of chromosome 7. Dr. Zakai's report (she is the diagnosing Geneticist) includes a Dr. nna Weksbergin, Toronto, at The Hospital for Sick Children. She must be heading up the research there. Perhaps you could contact her directly? I haven't done anything myself about it yet, although it has been one year since Jake's visit (one year and 2 days ago, actually, he was diagnosed with RSS and the blood samples were sent). Maybe I'll get a letter off, too. Of course, we were also told that the results are positive in only about 10-15% of RSS cases. By the way, as I re-read the Geneticist's report, I saw the actual lingo for those bright white spots on the hand films that I've mentioned a few times. It says, " ...hand film looking for pseudoespiphyses at the base of the second metacarpals and ivory epepheses of the distal phalanges. These findings are highly suggestive of -Silver Syndrome. " So, anyway, has anyone else been told of these characteristics of the syndrome? And if you've heard of them, does anyone's child have them also? , does your research/information have these as characteristics of RSS? Katy, let me know if you hear of anything. Debbi, Jake's mom, 4 yrs., 8 mos, 26.5 lbs., 37 " tall. ____________________________________ ____________________________________ --- katy badt-frissora wrote: > Hi Everyone, > > If your child has had the test for parental unisomy > of Chromosome #7 (where both > #7 chromosomes come from one parent...10-15% of RSS > kids display this, so a > negative result doesn't really mean anything)..... > > anyway, as I was saying, if your child has had this > test, could you please send > me the name of the lab that conducted the test. > CHOP docs are now telling me > that I will be lucky if the Toronto lab will get the > results back to us in a > year. It is completely dependent on the schedule of > the lab workers and > students, since this is just research for them. > > I am frustrated and want to find other labs that > might do this test. If the > test comes out negative, it doesn't really change > things, but if it comes out > positive, then it would really influence our > decision to put on GHT. > > > Thanks! > Katy > Mom to , 35 months, 26 pounds, 35 " , zantac, > periactin > <HR> <html> > ===== Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 11, 1999 Report Share Posted November 11, 1999 Storm also had the Chromosome 7 test and it came back normal, One from me and One from dad. So, I guess it doesn't really matter if it is or isn't. I don't know. Seems to me that 10 - 15 % is low. Any ideas? Carmen Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 12, 1999 Report Share Posted November 12, 1999 Debbi, The following is an abstract on RSS and hand x-rays that I found HAND RADIOGRAPHS IN RUSSELL-SILVER SYNDROME. Herman TE, Crawford JD, Cleveland RH, Kushner DC. Pediatrics 1987 May; 79(5):743-4 Left-hand radiographs were analyzed for bone age of 15 patients with -Silver syndrome. No single finding was pathognomoic. However, in children between 2 and 10 years of age, the concordance of significantly delayed maturation, clinodactyly, fifth middle or distal phalangeal hypoplasia, ivory epiphyses, and a second metacarpal pseudoepiphyses is suggestive and should prompt a search for the well-recognized clinical features of this condition. (the end) Hope this helps. ette Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 12, 1999 Report Share Posted November 12, 1999 Hi, Carmen-- I also think that 10-15% is a low percentage. What I wonder about is the if in only 10-15% of RSS cases the number 7 chromosome has both " parts " from mom, then in the other 85-90% of the times, something else must have gone wrong with the same number 7 chromosome in order to have the same characteristics. For example, if the genes on chromosome 7 are responsible for the shape of the fifth digit, whether or not the second and third toes are webbed and if the mieta (sp?) on the penis (the hole thru which they urinate) as well as the urethra grow to a different spot vs. to the tip of the penis, etc., then how can these genetic differences occur if the cause is not from #7-? Unless (as I think I remember from Advanced Bio--in H.S. and College), that characteristics are determined by several different genes throughout the whole strand of DNA and therefore that's why it takes soooooo much research to pinpoint which genes cause which characteristics and also, therefore, genetic differences could be caused by a variety of genetic abnormalities, so to speak. Anyone remember? Anyone know for sure? Debbi, Jake's mom --- Carmen Snyder wrote: > Storm also had the Chromosome 7 test and it came > back normal, One from me > and One from dad. > So, I guess it doesn't really matter if it is or > isn't. I don't know. > Seems to me that 10 - 15 % is low. > Any ideas? > Carmen > > > <HR> <html> > ===== Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 12, 1999 Report Share Posted November 12, 1999 Carmen, Could you please tell me the name of the lab that ran the test??? Thanks! Katy Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 12, 1999 Report Share Posted November 12, 1999 Okay, I may be a little " simple " , but what on Earth does this mean??? had a bone age study done of his left hand when he was around 29 months old and it was that of a newborn. The Endo. was thrilled with that result. Stacie POmal94479@... wrote: > From: POmal94479@... > > Debbi, > > The following is an abstract on RSS and hand x-rays that I found > > HAND RADIOGRAPHS IN RUSSELL-SILVER SYNDROME. Herman TE, Crawford JD, > Cleveland RH, Kushner DC. Pediatrics 1987 May; 79(5):743-4 > > Left-hand radiographs were analyzed for bone age of 15 patients with > -Silver syndrome. No single finding was pathognomoic. However, in > children between 2 and 10 years of age, the concordance of significantly > delayed maturation, clinodactyly, fifth middle or distal phalangeal > hypoplasia, ivory epiphyses, and a second metacarpal pseudoepiphyses is > suggestive and should prompt a search for the well-recognized clinical > features of this condition. (the end) > > Hope this helps. > ette > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 13, 1999 Report Share Posted November 13, 1999 ette, Thanks for the info--it's the first thing I've seen written that includes the ivory epiphyses, etc. So, I guess that explains why more of us RSS parents don't know about it. Debbi --- POmal94479@... wrote: > Debbi, > > The following is an abstract on RSS and hand x-rays > that I found > > HAND RADIOGRAPHS IN RUSSELL-SILVER SYNDROME. Herman > TE, Crawford JD, > Cleveland RH, Kushner DC. Pediatrics 1987 May; > 79(5):743-4 > > Left-hand radiographs were analyzed for bone age of > 15 patients with > -Silver syndrome. No single finding was > pathognomoic. However, in > children between 2 and 10 years of age, the > concordance of significantly > delayed maturation, clinodactyly, fifth middle or > distal phalangeal > hypoplasia, ivory epiphyses, and a second metacarpal > pseudoepiphyses is > suggestive and should prompt a search for the > well-recognized clinical > features of this condition. (the end) > > Hope this helps. > ette > <HR> <html> > ===== Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 13, 1999 Report Share Posted November 13, 1999 Hi, Stacie, Recently a whole explanation was posted by me and someone else on this list (or the GH-Peds list)-if you look in the archives, you'll get a good understanding of bone-age, etc. and why your endo is happy about a delayed bone-age for . Debbi --- tclfam@... wrote: > Okay, I may be a little " simple " , but what on Earth > does this mean??? > had a bone age study done of his left hand when he > was around 29 months old > and it was that of a newborn. The Endo. was > thrilled with that result. > > Stacie > > > POmal94479@... wrote: > > > From: POmal94479@... > > > > Debbi, > > > > The following is an abstract on RSS and hand > x-rays that I found > > > > HAND RADIOGRAPHS IN RUSSELL-SILVER SYNDROME. > Herman TE, Crawford JD, > > Cleveland RH, Kushner DC. Pediatrics 1987 May; > 79(5):743-4 > > > > Left-hand radiographs were analyzed for bone age > of 15 patients with > > -Silver syndrome. No single finding was > pathognomoic. However, in > > children between 2 and 10 years of age, the > concordance of significantly > > delayed maturation, clinodactyly, fifth middle or > distal phalangeal > > hypoplasia, ivory epiphyses, and a second > metacarpal pseudoepiphyses is > > suggestive and should prompt a search for the > well-recognized clinical > > features of this condition. (the end) > > > > Hope this helps. > > ette > > > > > > > <HR> <html> > ===== Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 14, 1999 Report Share Posted November 14, 1999 Katy, I don't have a clue which lab ran the test. We were living in S.C. at the time and only even saw that Geneticist the one time. Carmen Re: Chromosone 7 Test > > >Carmen, > >Could you please tell me the name of the lab that ran the test??? > >Thanks! >Katy > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 14, 1999 Report Share Posted November 14, 1999 Stacie, The abstract is just stating that there are characteristics that can be identified on x-ray that may help identify RSS. I thought the ivory epiphyses was interesting because I have heard others mention this or " pearl spots " . Delayed maturation - just means a delay in bone age. Clinodactyl - bending of the fifth finger, probably due to the middle or last bone in the little finger being " underdeveloped " . Hope this makes sense. ette Quote Link to comment Share on other sites More sharing options...
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