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Potocki-Shaffer Syndrome

What is Potocki-Shaffer Syndrome?

Potocki-Shaffer Syndrome is a rare genetic disorder resulting from the microdeletion of section 11.2 on the short arm of chromosome 11.

 

Potocki-Shaffer Syndrome is a rare genetic disorder resulting from the microdeletion of section 11.2 on the short arm of chromosome 11.
Acknowledgement of Potocki-Shaffer Syndrome has not been added yet.
Prevalence Information of Potocki-Shaffer Syndrome has not been added yet.
Synonyms for Potocki-Shaffer Syndrome has not been added yet.
Cause of Potocki-Shaffer Syndrome has not been added yet.
Symptoms for Potocki-Shaffer Syndrome has not been added yet.
Diagnosis of Potocki-Shaffer Syndrome has not been added yet.
Diagnostic tests of Potocki-Shaffer Syndrome has not been added yet
Treatments of Potocki-Shaffer Syndrome has not been added yet.
Prognosis of Potocki-Shaffer Syndrome has not been added yet.
Tips or Suggestions of Potocki-Shaffer Syndrome has not been added yet.
References of Potocki-Shaffer Syndrome has not been added yet.
new to the group Created by motherof2kidswithpss
Last updated 5 Mar 2011, 03:53 AM

Posted by motherof2kidswithpss
5 Mar 2011, 03:53 AM

lilly, My husband is mentally handicapped but until he got diagnosed with pss bcuz when he was about 2 he got a temp of 105 and cuzed him to stop breathing we always thought that that's what caused it. Now that he's older he's not as behind as some. My son is on a iep, and does have some learning problems but met all of his mile stones as a baby relatively on time. the only problem he really had was talking but he talks very well now. we do not know wich side of my husbands famiy it comes from bcuz both his mom and his dad had learining disabilities and his father is deceased and his mom refuses 2 believe that there is anything wrong with her. his brother has also refused to b tested or get his son tested. so i guess we'll never know. thanx for responding

Posted by Lilly
5 Mar 2011, 03:03 AM

hello, my 7-year old daughter is perfectly normal. does not have pss. i had the genetic test done few months ago and i don't have any predisposing factors/no genetic rearrangements or anything that might have caused the genetic deletion with my son. my husband still needs to do the genetic test to exclude him. we don't have pss as familial in either family (mine or my husband's). what i don't understand how is it possible that your son and husband have pss without any symptoms! may be because the deletion area is smaller! in my son's case the deletion area on his chromosome was quite big. this caused the loss of hundreds of genes, which explains why my son has all his current problems. never imagined that one could have pss and still be normal! lilly.

Posted by motherof2kidswithpss
3 Mar 2011, 08:57 AM

hey everyone, my little girl does have wear a smaller shoe size than most the kids her age but we had 2 buy them extra wide for a long time. we had to buy very expensive shoes wich added up now we can buy her walmart shoes. but she doesn't communicate very well with words either. its weird how my son , who has pss also, doesn't have any of these issues but my daughter does. my sons problems are more due to his adhd. but his speech is very well. its weird how 2 kids with the same syndrom have so many differences in them. when it comes to problems with the syndrom anyway. do any of u have more than one child with the syndrome or have it run in the family

View Full Thread (3 more posts)
Hello Created by jstocco
Last updated 28 Feb 2011, 08:07 PM

Posted by kellytrout
28 Feb 2011, 08:07 PM

Hello everyone - forgive me, I'm trying to learn my way around this site :-) My name is Kelly, and I live in Texas. My 29 yr old daughter has a deletion of 11p11.2 – 11p14.1. She was originally diagnosed with WAGR syndrome (del 11p13) but we know now that her deletion and symptoms include PSS. I would love to communicate with other parents of people with PSS, and I also have some resources (including an online parent support group which includes several others with PSS) and a research study) to share. You can email me at kellytrout@sbcglobal.net

Posted by jstocco
28 Feb 2011, 01:29 PM

Dear Mother of 2: Here is the link for Chromosome Disorder Outreach: https://www.chromodisorder.org/CDO/Join/Default.aspx You just click on :"join now" on that page, and they'll walk you through the steps. Good luck, Janet

Posted by motherof2kidswithpss
26 Feb 2011, 07:18 AM

I was wondering how to get in the chromosome disorder outreach. I would like to get to know other parents with children with this disorder.

View Full Thread (4 more posts)
11p Deletions Syndrome Created by kellytrout
Last updated 28 Feb 2011, 08:03 PM

Posted by kellytrout
28 Feb 2011, 08:03 PM

Hello - my name is Kelly, and I live in Texas. My 29 yr old daughter has a deletion of 11p11.2 - 11p14.1. She was originally diagnosed with WAGR syndrome (del 11p13) but we know now that her deletion and symptoms include PSS. I would love to communicate with other parents of people with PSS, and may have some helpful resources to share. You can email me at kellytrout@sbcglobal.net

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new to the group

Created by motherof2kidswithpss | Last updated 5 Mar 2011, 03:53 AM

Hello

Created by jstocco | Last updated 28 Feb 2011, 08:07 PM

11p Deletions Syndrome

Created by kellytrout | Last updated 28 Feb 2011, 08:03 PM


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