have you ever heard of

22q11.2 goldberg and shprintzen syndrome


This discussion is related to Rare chromonsonal deletion in 2-year-old?!.

[eureka254]

To answer your question, I have heard of 22q11.2 but have not heard it referred to as Goldberg Shprintzen syndrome.  My limited understanding is that 22q11.2 deletion is usually called DiGeorge or Velo-Cardio-Facial syndrome, and it is estimated to occur as often as 1 in every 2000 births (in the United States), though that may be completely different and separate from Goldberg-Shprintzen. Hope that helps. ~eureka

[marialou]

iv just seen your post i know about DiGeorge also and all alike,goldgerg and shprintzen is so rare it can be confused with shprintzen and goldberg.i can only appreciate the time you have taken and thankyou for even acknowledgein this syndrome could exist.im tired,coz nobody else does and it is there.i apologise again,guess im just a frustrated parent xxx

[eureka254]

DiGeorge (22q11.2) is fairly well-documented, but like you say, there seems to be much less information out there about Goldberg-Shprintzen (10q22.1, KA1279), which is different and less common than Shrprintzen-Goldberg.  

I found some good resources and gateways on line that maybe useful:
http://rarediseases.info.nih.gov/GARD/Condition/9849/GoldbergShprintzen_megacolon_syndrome.aspx/Showall#Resources

Also, I don't know where you are exactly in the UK in reference to this doctor, but if you're pursuing info on 10q22.1 as opposed to 22q11.2, you might look him up:

Cheshire and Merseyside Medical Genetics Service
Department of Clinical Genetics, Alder Hey Children's Hospital, Liverpool, UK. ***@****

[eureka254]

I forget that MH doesn't like email addresses.  It should be typed as
h-m-u-r-p-h-y-@-liv(dot)ac(dot)uk

[marialou]

hi helen murphy was actually my genetic councellor for over ten years till she got promoted and moved to manchester,before her was dr.alan fryer. rachel kneen was another one and many more.they all seemed to have disappeared, she is under a dr.spinty now who i truely respect but no particular follow ups and developements regarding her syndrome are being investigated or really ever have been,i met the leading world expert alice brooks but to no avail,i feel pushed aside

[marialou]

sorry for goin a bit deep there,i just wanted to add again it truely gives a smidgin of hope to look on MH and see somebody you dont even know actually listens and cares.its heartwarming and i thankyou again take care