Size of deletion

[Anonymous]

<p>Hi there,</p>
<p>I am after a little bit of advice, guidance and information with regard to the size of deletion…my results from the geneticist read del(4)(p16.3 p15.33)(13.03Mb). I have been told this is severe and will result in my baby girl having a number of metal and physical problems. I have done some research myself but it is hard to find details on this subject. Can anyone give me further inforamtion on what this means for my gorgeous girl? </p>
<p>After speaking with the medical team this past Friday they have made it clear that her survival rate after birth is not looking good due to the diaphragmatic hernia currently sitting on her left side. I am continuing with my pregnancy and hoping that my baby girl will be strong and fight this battle and prove the doctors wrong…after all miracles do happen! </p>
<p>Looking at the more positive side of things our scan on Friday showed lil miss peanut growing well and currently at the size she should be and her right lung is at a good size and she has great heart beat even though this is sitting more to the right of her chest. She is proving to be very stubborn in her scans and doesn’t like to sit still (she sure is my daughter hehe).</p>
<p>Any help you can give me would be much appreciated x<br />
Also thank you to Kevin for emailing my information to other families in NZ, I am now intouch with four amazing families willing to help and support me through this somewhat challenging journey and I no longer feel alone :0)
</p>

[Heath13Member]

There is a medical article you may find helpful – On the Nosology and Pathogenesis of WHS”. Another parent mentioned it on this site and I got it from my Genetic Counsilor. If you post your e-mail address, I can send it to you. From what the article says there are 3 classifications for WHS – Mild (under 3 Mb loss)Classical (5 -18mbs) and Severe – 22 or more. (that may not be exact). Anyway, while the article is very filled with medial jargon, it is still interesting and you may find it helpful.

[Anonymous]

Thank you Heath, I also saw that article posted on here somewhere and have read it. I did find it interesting but was hoping someone may have some more insight into this. Thank you for taking the time to post back to me, i really appreciate it.

[JazzMember]

My daughter Ariarna has a small deletion, the geneticist said this will determine how severe her disability will be as she grow’s. He also said most patients he comes across have a partial or full deletion of 4p- If I was to split my daughter’s chromosome into 4 parts then I would say she has 3 parts of her chromosome & only 1 part is missing this how it was explained to me, which is quiet rare so the geneticist says & this may mean that her disability may not be as severe as others with wolf hirschhorn syndrome… Although I can not compare honestly I’ve never met anyone else with WHS. I was worried my daughter would never walk or talk, but she is dertimined to show me not to worry & that she can do things in leaps & bounds, each child is different & the severity/mildness is different in each disabillity.
I hope this info helps you in some way, Good luck with your little miss

[MMember]

Hi There!

A bit late on replying but would like to share a bit. My daughter has a 11mb deletion (as far as I remember, haven’t looked at the papers for awhile) but I know it’s around that range.

Not based on statistics but soley on my experience with my daughter, things are awesome!! Her deletion is categorized as “classical” but she is definitely not the “classical” whs kid that they base there facts on.

She’s feeds orally since birth, and has been off the whs growth charts since a few months old. She’s 18 months now and is 22 pounds and 77cm tall. She’s standing supported and can do a bunch of other things that surprise me daily!

The things we have struggled eith were her seizures. They started at 6 months old but the have been fully controlled at around 8-9 months old. We’ve experienced 2 break through seizures since then that was triggered by fevers.

If you want to talk or share more, let me know and we could connect more. Heres my email. isabella101210@gmail.com

[Author]

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