finding people with rare chromo 2p

R - posted on 04/20/2012 ( 21 moms have responded )

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My son was recently diagnosed with chromosome 2 deletion NRNX1 gene (2p16.3). It has been a struggle and I would like to learn more about it and hear of any other experiences.

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Heather - posted on 08/18/2013

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Hello all, my daughter was diagnosed with a chromosome copy loss 2p16.3. After genetic testing, I was also found to be the carrier. There's nothing wrong except she is a few months behind in speech. I was the same way as a child. Now I'm a successful adult who is in graduate school and leading a normal life. I don't believe that all of these things are directly linked (mental illnesses) to this copy loss. If so, I would've been in the nuthouse already. I think you just need to take a little bit more time to work with your child on certain areas of delay. That's what I'm doing and it's paying off big time. I was so upset to find out she ha genetic issues in January 2012 when we got the results and then when I found out I was the carrier, I felt crushed. But you learn that no one is genetically perfect and that your child is a gift from god who is unique in their own way.

Regina - posted on 04/24/2013

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Hi Las. Is your daughter on a set schedule? Does she know that at this time she is going to be doing this or that or is it kind of when it happens it happens kind of schedule?

Iridescent - posted on 04/21/2012

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You might find someone else with this disorder on UNIQUE - www.rarechromo.org - you sign up and list the exact chromosome disorder and it lets you search their database as well.

Katherine - posted on 04/21/2012

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What is chromosome 2?



Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 2, one copy inherited from each parent, form one of the pairs. Chromosome 2 is the second largest human chromosome, spanning more than 243 million building blocks of DNA (base pairs) and representing almost 8 percent of the total DNA in cells.



Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 2 likely contains between 1,300 and 1,400 genes. These genes perform a variety of different roles in the body.



Genes on chromosome 2 are among the estimated 20,000 to 25,000 total genes in the human genome.

How are changes in chromosome 2 related to health conditions?



Many genetic conditions are related to changes in particular genes on chromosome 2. This list of disorders associated with genes on chromosome 2 provides links to additional information.



Changes in the structure or number of copies of a chromosome can also cause problems with health and development. The following chromosomal conditions are associated with such changes in chromosome 2.



cancers



Changes in chromosome 2 have been identified in several types of cancer. These genetic changes are somatic, which means they are acquired during a person's lifetime and are present only in certain cells. For example, a rearrangement (translocation) of genetic material between chromosomes 2 and 3 has been associated with cancers of a certain type of blood cell originating in the bone marrow (myeloid malignancies).



Trisomy 2, in which cells have three copies of chromosome 2 instead of the usual two copies, has been found in myelodysplastic syndrome. This disease affects the blood and bone marrow. People with myelodysplastic syndrome have a low number of red blood cells (anemia) and an increased risk of developing a form of blood cancer known as acute myeloid leukemia.

2q37 deletion syndrome



2q37 deletion syndrome is caused by a deletion of genetic material from a specific region in the long (q) arm of chromosome 2. The deletion occurs near the end of the chromosome at a location designated 2q37. The size of the deletion varies among affected individuals. The signs and symptoms of this disorder, which may include intellectual disability, autism, short stature, obesity, and characteristic facial features, are probably related to the loss of multiple genes in this region.

other chromosomal conditions



Another chromosome 2 abnormality is known as a ring chromosome 2. A ring chromosome is formed when breaks occur at both ends of the chromosome and the broken ends join together to form a circular structure. Individuals with this chromosome abnormality often have developmental delay, small head size (microcephaly), slow growth before and after birth, heart defects, and distinctive facial features. The severity of symptoms typically depends on how many and which types of cells contain the ring chromosome 2.



Other changes involving the number or structure of chromosome 2 include an extra piece of the chromosome in each cell (partial trisomy 2) or a missing segment of the chromosome in each cell (partial monosomy 2). These changes can have a variety of effects on health and development, including intellectual disability, slow growth, characteristic facial features, weak muscle tone (hypotonia), and abnormalities of the fingers and toes.



Is there a standard way to diagram chromosome 2?



Geneticists use diagrams called ideograms as a standard representation for chromosomes. Ideograms show a chromosome's relative size and its banding pattern. A banding pattern is the characteristic pattern of dark and light bands that appears when a chromosome is stained with a chemical solution and then viewed under a microscope. These bands are used to describe the location of genes on each chromosome.

Ideogram of chromosome 2

See How do geneticists indicate the location of a gene? in the Handbook.



http://ghr.nlm.nih.gov/chromosome/2





Hope this helps.

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21 Comments

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Mary - posted on 06/01/2014

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Just found out both my children have the chromosome 2p16.3 deletion the doctors say that is why they have asd / adhd . Can this deletion cause regression in learning does anyone have any information on it? Ty

Mary - posted on 06/01/2014

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Just found out both my children have the chromosome 2p16.3 deletion .The doctors say that is why they have asd/adhd have you heard if this is causes regression in learning? Please answer me.ty

Hannah - posted on 02/04/2014

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Hi I found out just before xmas my 10 year old has 2p16.3 deletion she has speech delay and learning difficulties

Carrie - posted on 05/08/2013

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Hi
I'm a teacher currently researching learning and Chromosome 2 deletion. This is new to me but I want to find the best way to support children with this condition so I can maximise their learning. If anyone has come across good educational material I would love to hear about it. I'm starting out on this journey in the hope of finding out what works best!

Las - posted on 05/07/2013

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Hi ashley beck...thanks for this information
Would mind me asking...do child with this 2p16.3 deletion able to read? Potty trained?my daughter crying for every things...eating..changing nappy...dressing up...any thing..she pretends that she understand wha i am saying but actually she doesnt she just want to socilaise....she is three and half...what about the apperance..? Pliz give usmore information..many thanks
Las

Ashley - posted on 04/30/2013

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Hey! Just thought I would respond. All three of my children have NRXN1 syndrome. My children are ages 4, 7, and 9. The things that they go through are learning delays, hypotonia, poor motor skills, psychiatric disorders, possible Asbergers for my son, and my youngest also has Albinism and a Partial T-cell immunodeficiency syndrome. Oh the joys of parenting. My children are otherwise normal kids. They are all doing okay I suppose. I am the one who carries the gene but yet have no effects from it. Weird. Hope this info helped.

Las - posted on 04/25/2013

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hi Regina Creamer....thanks for your reply...she knows that now is the time for changing nappy, and I tell her lets change your nappy ...today when I picked her up from her school...she cried all the way home ,,,and people were staring at me...I tell her why you cry ? what is the reason? when she calms down she says crying is not good..
have you had any experience with people like her...I am really worried about her future?

Las - posted on 04/24/2013

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Hi....today after doing a genetic test for my globally delayed daughter who is three and half years old, she has diagnosed with abnormality on 2p16.3 chromosome...and when I googled I found this website, my daughter strated to walk at 19 month, she sat up at 11 months, and she said her first word at 22 month...she is three and half now but still unable to make a sentence, she says daddy work... mummy sleeping bed... she is crying for nappy changing, for getting dressed for going out,, for eating...... please if any one has a child like this please help us on how we should deal with her....I am totally finished...all I do is crying....can she be a normal person?....or what....please help

Emmylou - posted on 04/06/2013

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I have recently found out that my 4 year old son has a 2p16.3 deletion we are still waiting to see the specialist

Regina - posted on 10/10/2012

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Joy,

It is a blessing to know we are not alone and I would love to chat. Please feel free to email me at r.creamer@yahoo.com. Please identify by placing something in the subject line so I do not think it is spam. Look forward to hearing from you.

Joy - posted on 10/09/2012

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Hi RC...I am new to the circle...i just found this site as I google searched the results we recently received regarding two of my three children....It has taken 18 years to receive our diagnosis which is similar to yours....I have an 18 year old son, Vincent and a 16 year old daughter from my first marriage that both have a chromosomal deletion 2p16.3 and also a duplication of Xp22.33 .....there doesn't seem to be much information available to us, however it is a blessing to find someone else who shares this! This deletion has been traced back to my ex-husband. I also have a 6 year old daughter, Abby from my 2nd husband and she does not have any chromosomal abnormalities. My oldest children are similar yet different. My son is very small, he has developmental delay, cognitive delay, microcephaly, cleft palate, bilateral cysts in his brain, bilateral duane's syndrome of his eyes and low muscle tone...he has also had his spine fused due to severe scoliosis. My daughter has cerebral palsy and a seizure disorder called Lennox-gastaut syndrome. She is also small, with extreme developmental and cognitive delay. She is 16 and has not been able to be potty trained as of yet (but we continue to try). There is so much I could tell you about our story...if you would like to swap stories, I would love to chat with you =)

Thanks, Joy

Iridescent - posted on 04/22/2012

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My daughter and I are both missing most of Chromosome 1p13-p11. Exons 1-5 and some surrounding material of the NOTCH2 gene. We have a lot of health problems, but it's felt they're unrelated to that defect, but they aren't sure because they've never seen anyone missing so much of that gene before.

Iridescent - posted on 04/22/2012

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You're welcome. I have a few friends in a group that is regional that a friend of mine made - a lot with kids with chromosomal disorders that are rarely or never seen before. It is hard having a child that isn't diagnosed, but it's just as hard having a diagnosis that is letters and numbers on a page, no prognosis, no idea what to expect at all, you're making the map. I hope you're able to find others with a similar disorder, even if it's not the same, to talk to!

R - posted on 04/22/2012

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Thank you for the information! It was very interesting and helpful in an effort to try and better understand everything that is going on and has been going on. I am also trying to find information on 2p16.3 and what that specifically could mean or possibly be linked to.

I will check out the sites.

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