[alkalineangel]

Does anyone have any information regarding this chromosome abnormality. I can't find anything online that gives me any understandable information... thanks so much in advance.

[J_9]

I'm taking Johnny to the doctor now, but when I get back I will research my school's online medical library and see what I can come up with for you.

[alkalineangel]

Thanks so much J.. :)

[J_9]

Hun, this is what I got for you so far. I was unable to C&P the whole thing here, so I am providing the link. Let me know if you can't get in.

18p-
(chromosome 18 short arm deletion syndrome, monosomy 18p)

Literature review
This information is the result of a search of the medical literature. The information was derived from medical case reports written by physicians to inform other physicians. These reports were intended to aid in the recognition and diagnosis of the syndrome. A suspected diagnosis of a chromosomal abnormality involves the overall picture of the combination of characteristics. For this reason, many seemingly inconsequential factors are mentioned such as an increased number of whorl patterns on the fingertips. It is the combination of characteristics and not so much the magnitude of each of them that is important in suspecting a chromosomal abnormality.

There are several inherent problems with a compilation of other people's work. Not everyone mentions all of the same symptoms of the syndrome. If someone fails to mention that a patient has a high arched palate, is that because the patient did not have one, or because it was not noticed? Some features such as cleft lip are hard to miss and if present are most certainly reported. Some doctors may report that their patient has abnormal ears and another may state exactly what the deformity is, but there is no way of knowing if they are reporting the same abnormality. Therefore, the frequency of each of these symptoms is not complete.

It is important to remember that it is usually the extreme or unusual cases which are reported, so the available information may produce a more severe picture of the syndrome. A diagnosis is usually only sought if the person has developmental or medical problems. A person who may look a little different and made it through school with C's and D's and actually has a chromosome abnormality may never be diagnosed. Therefore, we do not know if such mildly affected people exist. It is also important to remember that these descriptions do not represent any single person. In fact, many parents report that their child has fewer than half of these problems. But a generalized description can still be useful to the parent who is searching for answers and trying to ask the right questions.

The female to male ratio is 2/1. Birth weight averages 2600 gm (5 lb. 11 oz.), which is the low end of normal. 19% died as newborns, all from severe brain malformations.

Here is the link
18p-

[alkalineangel]

Thanks J, that was much easier to understand than some of the medical journals I was finding online. Appreciate your help.

[J_9]

Don't hesitate to let me know if you need any more. My school has a great online library.

[rwoytsek]

Actually, I have a 7-year-old son with this (and mosiacism) if you'd like to know anything else.

[alkalineangel]

Thanks, but I have what I was looking for now. :) My niece also has this.

[rwoytsek]

Well, if that's the case, I'd certainly like to talk to someone else with knowledge of this because I know no one else with kids that have this same disorder. It would be nice to have someone who shares the same frustrations and such.

[alkalineangel]

Ill check with my sister to see if she minds me giving you her email address. She would probably love to discuss with someone else in her shoes. I know it must be frustrating, I've been told it is very rare.

[rwoytsek]

Thanks. :)

[BAWLSY]

Does anyone have any information regarding this chromosome abnormality. I can't find anything online that gives me any understandable information...thanks so much in advance.

What exactly are you wanting answers to?

[BAWLSY]

18P- means the short arm of the 18th chromosone has disappeared. Usually it lodges onto another chromosone ensuring you have the full tablet of in your makeup. You are asking about the 18P deletion meaning the short arm has disappeared completely leaving you short. I am a carrier of the 10P- disease but my nephew is living with 10P- disease. He is 22 yr old this 2012 August. He suffers from little mobility, bad eyesight, various internal problems, wears a nappy at all times no control over his limbs. His comunication skills is something his family has perfected since he was the age of 2 weeks. He is thriving and will be living in an assisted home with 24hr care and home with his family on the weekends. This is only a trial for the family and if they feel he doesn't like it the will bring him home altogether.