Genetic Disorders Expert Forum
Rare chromonsonal deletion in 2-year-old?!
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

Rare chromonsonal deletion in 2-year-old?!

Hi...I was hoping you could help me out with something! A dear friend of mine just found out that her 2-year-old daughter has a rare chromosomal deletion, apparently she is missing the short arm of chromosome 16? She's got a severe protein allergy and receives special formula through a G-tube in her stomach....she also has speech delays as a result of this rare chromosomal problem. I was wondering what are the treatment options for this?  Do they have genetic therapy that they can perform to help her overcome this deficiency? I am asking because, while I know my friends are exploring every avenue of knowledge/treatment, I was hoping maybe I could help them come up with some more knowledge. I would appreciate any help you can offer....I know this is a very rare condition, but I'm just hoping to help them shed some light on this situation. They've been trying to come up with an answer for this ever since their baby started showing severe allergies to breastmilk at around a year of age and her growth began to stunt. They finally have this answer, but it's not really much of an answer and I know they're relieved to know but frustrated at not knowing more!! Thank you for your help :)
Related Discussions
886824_tn?1253740254
We recommend that your friend's child meet with a medical geneticist, who is a physician that specializes in the diagnosis, management and treatment of genetic disorders such as chromosome abnormalities. Sometimes, in cases of really rare disorders, there is limited information available about what to expect in the future, as only a few cases (if any at all) have been documented. We wish your friend's family the best.
2 Comments
Blank
Avatar_f_tn
They need to see a geneticist for advice on their daughter's prognosis, treatment, etc.
Blank
1409346_tn?1284152750
A related discussion, Chromosome 16 duplication was started.
Blank
395787_tn?1298432387
A related discussion, have you ever heard of was started.
Blank
Continue discussion Blank
MedHelp Health Answers
Blank
Weight Tracker
Weight Tracker
Start Tracking Now
RSS Expert Activity
469720_tn?1388149949
Blank
Abdominal Aortic Aneurysm-treatable... Blank
Oct 04 by Lee Kirksey, MDBlank
242532_tn?1269553979
Blank
The 3 Essentials to Ending Emotiona...
Sep 18 by Roger Gould, M.D.Blank
242532_tn?1269553979
Blank
Control Emotional Eating with this ...
Sep 04 by Roger Gould, M.D.Blank