After just getting my daughter’s diagnosis of 1p36 deletion a few months ago, we discovered this week that I (her father) also have the deletion.
Does anyone else know if they have the deletion? If so, do you have other normal children? Have they been tested to see if they are a carrier?
Thanks!
I assume you have a 1p36 trans-location and not 1p36 Deletion Syndrome. There is another parent in the 1p36 yahoo group that has a trans-location. she has had 3 children and all 3 had 1p36 Deletion Syndrome. From what I understand, if you have a trans-located 1p36 then each of your children would have a one in four chance of having 1p36 Deletion Syndrome.
I have Mollie, 15 years old with 1p36 Deletion and Ellie 4 years. When I was pregnant with Ellie we had her chromosomes tested and everything came back normal. it wasn’t much of a reassurance because Mollie’s tested normal 2 times. We did ask them to specifically look at Ellie’s first chromosomes and they said they were normal. I don’t know that I believed it until she was born and everything was okay 
If you are not a member of the yahoo 1p36 group you should join. I am one of the moderators of the group. We have well over 100 members.
Christina
I asked my geneticist today if I had a translocation or a deletion, and he said that it was a deletion. My daughter and I were both diagnosed using a FISH micro-array test, and in both of our cases, a deletion was detected. I asked him if perhaps that portion was translocated, and he said if it were, then the test would have detected two signals, and only one was detected.
Our second daughter is also named Ellie. She’s 5 and completely normal. We are expecting again in January… We only found out about Grace’s (she’s 8)deletion about four months ago - after we were already pregnant.
And I just submitted to join the yahoo group, but it’s waiting approval.
Hi,I’m Chris. I’m new to this whole internet chat thing. But, my 9 month old daughter Ellie’s diagnosis on the 28th with 1p36 deletion syndrome necessitates it. (Our boys, 4 & 3 are amoungst the many Zach’s and Josh’s so we tried to pick a less common name… apparently we didn’t succeed). Neither our pediatrician nor our pediatric neurologist has ever seen it. All they could offer us was a journal article that painted a very grim picture. We were told Ellie would probably be severely handicapped. Which we have a hard time believing because developementally, were only about 2 months behind. She has seizures, which are fairly well controlled, but otherwise looks like a normal healthy baby. After looking at pictures of other children with 1p36 she does share some of the characteristics, but still looks very similar to her older brother. My wife and I are joining in hopes of getting a more realistic picture of what we might expect. Our appt. with the geneticist, so my wife and I can be tested, and get set up for counseling, is 3 months away so If theres something we should be doing sooner than later we’d love the suggestions. Thanks
Chris,
As you will find out as you read more, 1P36 hasn’t been diagnosed for very long and there isn’t a lot of information yet. One thing I have noticed, however, is that every kid with it is unique.
You have probably read the same information that all of us have. And they tend to paint a grim picture. But also the articles are generally studies of small samples of 1P36ers and again, not a lot is known about it yet.
Misha has developmental delays across the board as can be expected. He turned over late, crawled late, and started walking late (some kids never can walk without assistance). He has notable speech delays as is also common.
His communication reception skills however are within a normal range (according to a child psychologist). We are not sure yet whether or not, and to what extent he may have any brain damage, but that will come with time.
My advice would be to take it as it comes. Elle will have her own unique issues. Also, learn sign language. It will come in handy.
Josh