diagnosed with rare chromosome syndrome

Caroline - posted on 11/01/2009 ( 10 moms have responded )

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my daughter was diagnosed with Potocki-Lupski syndrome. has anyone heard of it

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Marie - posted on 11/04/2009

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My daughter has chromosome 16 q partial deletion. She was behind in her gross motor skills. She started to walk at age 18 months and had to have a tube placed for feeding. She did not start to eat and therefore did not thrive. Her speach is delayed aswell. However, I don't think she is mentally delayed at all. :)

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Charlene - posted on 03/08/2012

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Hi my daughter was diagnosed 4 years ago with this syndrome. She is now in first grade, special education but has made significant progress over the last year or so. I would love to chat further. Charlene

Amy - posted on 01/18/2010

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Hi everyone..My son is 13, severe/profound deafness, ADHD, duplication of y chromosome, also cognitive disability..Very delayed has the mentality of an 8 yr old in the body of a 13 yr old. Very frustrating!! Behavior and severe aggression has been noted..any help out there???

Ericka - posted on 01/13/2010

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Hi Everyone, My son has duplacation of x chromosome p11.22 which has caused
development delays, Cognitive Impaired. He is 11 but most like 6.
Good luck!

Stacy - posted on 01/08/2010

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Kelly, this sounds wonderful! I am going to try this out. My son has Rubinstein-Taybi Syndrome, a depletion on the 16th. I was going to suggest the MUMS program, but I haven't used it in years so I don't know how well it would work now! Thanks for sharing that info!

Kelley - posted on 12/21/2009

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Hi Caroline. Why dont you check out the web site called UNIQUE rare chromosome abnormalities. My son has a very rare one. 18p11.32. an extra peice on 18p arm. Anyway the geneticist advised me to join unique and they can help you find other people with the same diagnosis or similar and also let you know about the abnormality. let me know how you get on. kelley

Kelli - posted on 11/03/2009

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don't know anything about the syndrome, but wanted to offer support! My DD has a 5q deletion, also rare, only 21 reported cases in the US when she was born. My best advice (if you can't find others with the same syndrome) is to take the symptoms and find another more widely known problem (autism, down syndrome, etc) that it could be compared to and try to find those moms so you can find someone to talk to! My DD is deveopmentally delayed and is about a year behind what she should be and most closely resembles a mild autsitic child with some other problems, so I've found great friends in the autism community. Good luck!!!

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