Chromosome 15 / Tetrasomy 15q 25 Syndrome

[Mom2Julia]

Wanted to post the information on the syndrome my daughter, Julia, has in case there are others it could help. Tetrasomy 15q25 is a rare finding of an inverted duplication of chromosome 15. In medical literature there are about 10 other cases found...features can include metopic craniosynostosis, wide nasal bridge, low set/cupped ears, ptosis, overlapping of 4th & 5th fingers, ASD, abnormal kidneys, high arched narrow pallett, low muscle tone, increased postnatal growth, hearing and/or vision problems and mild to severe mental retardation / developmental delays.

[Tawnia]

Thanks for the info Kim. Its always amazing to me how many things can cause Cranio.

[marrydavidson101]

Zach is on medicaid bc erics employer doesnt offer insurance. OH WHAT FUN!!! anyways i am getting a huge run around from them when in it comes to receiving billing statements from our doctors. They have the philosophy of 'if its all paid for why do you need the statements" WHAT!!!??!! i want them for my records.. i think thats my right. well when i call them they tell me to call so and so and then so and so tells me to call the other guy back. Well the doctors offices tell me that its not their responsiblity that medicaid should send me the EBO. GRRR. After being on the phone for a couple hours and getting no where i decided that i would just call medical records and billing of all his doctors and request copies ... No biggie i suppose. But i just dont understand why i have to do that. Shouldnt i just get them?

[Avery's Mom]

Avery has Trisomy 14q....also vey rare. Less than a dozen documented cases. The effects look to be pretty similar.