Genetic Disorders Expert Forum
26 month old boy
About This Forum:

Questions in the Genetics Forum are being answered by medical professionals and experts. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.

Font Size:
A
A
A
Background:
Blank
Blank
Blank
This expert forum is not accepting new questions. Please post your question in one of our medical support communities.
Blank Blank

26 month old boy

large 6p deletion at 25.1 and a large size duplication of chromosome 7q 21.13

What the heck does all this mean? Even the genetics counselr said they didnt know what it meant!! I am frustrated!!

Also he has muscle tone issues in his feet/ankles.....so now he has to wear braces...He also has seizures, blue sclera, and aspergers....other than all of this he is just a normal two year old. He acts like any other little boy!! Nothing out of the norm, and if it werent for his seizures starting as a small infant, we would not have known anything was wrong.....Even his seizures arent as bad as they could be...he has tonic, atonic, and absence....and not too often now!! He is on lamictal and depakote sprinkles..........................any ideas...I am so tired of asking and finding out nothing!! I want to know if this is all related to his chroomosme stuff, and what else might come along,..or are there other tests we could/should be doing?!

Thanks so much!! <3
Related Discussions
1 Comment
Blank
Avatar_n_tn
Hi Vickilynn, My son has DiGeorge, he has a deletiong of the 22 chromosome. He had seizures when he was born and it was due to a lack of calcium. He was treated with Calcium until the age of 15. He also has a learning disability.
Blank
Continue discussion Blank
MedHelp Health Answers
Blank
Weight Tracker
Weight Tracker
Start Tracking Now
RSS Expert Activity
242532_tn?1269553979
Blank
Emotional Eating Control: How to St...
Aug 28 by Roger Gould, M.D.Blank
233488_tn?1310696703
Blank
New Cannabis Article from NORTH Mag...
Jul 20 by John C Hagan III, MD, FACS, FAAOBlank
242532_tn?1269553979
Blank
3 Reasons Why You are Still Binge E...
Jul 14 by Roger Gould, M.D.Blank