Chromosome 16q Deletion - And Your Family
My Sunshine Beating all Expectations
Chromosome 16 Deletion
I am speaking from first hand knowledge regarding chromosome 16 deletion. My daughter has a deletion of the 16q22.1 to q22.3 chromosome. What this means is she did not full develop or get the normal number of 46 chromosomes that the average normal human has. In the perfect world, there would be enough research and money for this chromosome to be identified fully and documented. Unfortunately research is still on going, and most geneticist, can only give us a estimate based on other deletions of what can or might happen to my daughter. You never care about some sort of disease or condition unless it affects you or someone you love, and on the third day my daughter was in the ICU, I am thankful that one of the doctors recognized her physical features with her ears, and nose had a pointed slant to them. To me, as she is today, she just looked like my beautiful baby girl. Having a chromosome condition, doesn't always mean your child will have a deformity. It takes a keen eyes and someone well trained to notice the features. My daughters fingers have an extra joint that allows her to move her hand around almost freely in any direction. Her growth is not as far along as other children her age, and she has special braces in her shoes She says a few words, but she is far behind when compared to other children. To me as a parent, that is ok, I will go at whatever pace my child needs to go in order to help her succeed. This Hubpage will be about the conditions related to her missing chromosome 16 deletion.. It took a lot for me to compile and find the various information on this genetic disorder. It cannot be cured. My daughter has a long list of various things that affects her, but she is as healthy as she can be, and she has made it to her 3rd birthday. Everyday I cherish her being a gift from God. The more info I find and research and programs and any other detail I find, related to Chromosome 16, I will add to this Hubpage. You don't care about something until it affects you, and this has affected thousands of babies every year, and some chromosome 16 deletions are worse than others. For other parents and Hubbers that may know of a friend or family member with the same missing chromosome, let them know about what you read today. Don't be afraid to educate yourself about a disorder. The more knowledge you have the better you will be for yourself and your loved one. My strong young 3 year old had heart surgery when she was about 9 months old, and she has a tiny device in her heart. That was at 9 months, she is now at 3 years old. She has beaten some odds and continues to improve, and she is improving my take on life and how I approach things. The list below doesn't mean all kids and children will develop any of the conditions. Some people go to live normal lives. Some people have a deletion and do not know it. The complex human body is very unique and everything happens for a reason. My daughter was meant to have this happen to her, and her father,(ME!!!) I was meant to spread this word about this condition to help other parents. Patience is something you have to learn. I have all the patience in the world for my young one. Her older sister has patience and her mother. Some people may not understand why she acts the way she acts sometimes but that's ok. Everybody that gets to know my 3 year old eventually find out she is bright smart, strong willed and very determined. And she will look at you crazy if she thinks something is wrong and you are treating her differently. She is and always will be my Sunshine.
What is chromosome 16?
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 16, one copy inherited from each parent, form one of the pairs. Chromosome 16 spans about 89 million DNA building blocks. Chromosome 16 contains between 850 and 1,200 genes.
Genes on chromosome 16 are among the estimated 20,000 to 25,000 total genes in the human genome.
These conditions are related to genes on chromosome 16:
- alpha thalassemia
- alveolar capillary dysplasia with misalignment of pulmonary veins
- breast cancer
- Brody myopathy
- Charcot-Marie-Tooth disease
- congenital disorder of glycosylation type Ia
- Crohn disease
- familial Mediterranean fever
- Fanconi anemia
- giant axonal neuropathy
- Gitelman syndrome
- Huntington disease-like syndrome
- juvenile Batten disease
- lymphedema-distichiasis syndrome
- malonyl-CoA decarboxylase deficiency
- Miller syndrome
- mucolipidosis III gamma
- mucopolysaccharidosis type IV
- North American Indian childhood cirrhosis
- oculocutaneous albinism
- polycystic kidney disease
- pseudohypoaldosteronism type 1
- pseudoxanthoma elasticum
- Rubinstein-Taybi syndrome
- spastic paraplegia type 7
- Townes-Brocks Syndrome
- tuberous sclerosis complex
- uromodulin-associated kidney disease
U.S. National Library of Medicine -Genetics Reference
- Genetics Home Reference - Your guide to understanding genetic conditions
Great FREE information on genetic disorders, and other chromosome conditions.
- Human Genome Project Information
Project goals were to identify all the approximately 20,000-25,000 genes in human DNA,determine the sequences of the 3 billion chemical base pairs that make up human DNA,store this information in databases,improve tools for data analysis.
Update Dec. 2015
She is 6 years old, and enjoys school, has friends, but still has her struggles. She is in the special needs program for her school district, and will always need help for the rest of her life, but she is doing the best she can, and her unique special ways improves the lives of everyone around her. She is a clean freak! Yes I call my little one a clean freak! If you dare leave something behind, on the table, or leave a pillow on the couch, it better go with you after your done, or she will let you know! I love my Sunshine! I will update this more soon, but for those with a family member who has a chromosome deletion, have a open mind, and always keep it positive..... She is calling me now, cause I haven't checked on her soup yet! Haha I love this girl!