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Baby Issue
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Baby Issue

My friend's mom just had a baby. During the pregnancy there was a slight amount of hydrocephalus but that mostly disappeared by 36 weeks. The baby was due on august 2nd, but the mother began to have contractions on july 10. The c-section was preformed on July 13. The baby was born with no physical deformations. She has told me that there has been some genetic problem, where there was a mutation on chromosome 20. She says that this will cause some level of mental retardation that is not yet known. She also says that this disease is so rare that they are the only family in the United States to have it and that it's so rare it doesn't have a name. Is there anything anybody knows about this?
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1227139_tn?1367231533
Hello MirandaR

I would like to pass on congratulations to your Mom's friend firstly.  
As for the genetic abnormality of chromosome 20, it is not rare, and tends to affect about 7% of the population.  There are two different types of genetic abnormality that involve Chromosome 20, and then there are sub categories like translocations and other mutations of the chromosome.
What is important, is that this mother find out about something called Early Intervention.  This is a free service in most countries that work with babies and young children with specialize therapies to assist in the development of that child.  The term, Mental Retardation (for your own information) is not used any longer, as it is now considered offensive.  The term used today is Intellectual delay, or Developmental delay.  I know that many people do not know this, but the old term is now phased out of literature because it tends to have negative connotations.
And they are quite right about not being able to determine the level of intellectual disability, each baby is different, just like each abnormality with chromosomes are different.
Here is a short messag about the chromosome 20:
Deletions or duplications of genetic material from chromosome 20 can have a variety of effects, including intellectual disability, delayed development, distinctive facial features, skeletal abnormalities, and heart defects. Several different changes in the structure of chromosome 20 have been reported. These include an extra segment of the short (p) or long (q) arm of the chromosome in each cell (partial trisomy 20p or 20q) or a missing segment of the short or long arm of the chromosome in each cell (partial monosomy 20p or 20q).
This information can be read here:
http://ghr.nlm.nih.gov/chromosome/20

There are all sorts of resources that your mothers friend can get, hopefully she has had some genetic counselling, they will provide the appripriate level of information and also direct her in the right way with respect to how to contact Early Intervention.  Most babies who are diagnossed with some sort of genetic/chromosomal abnormality are living much better and typical lives due to the advances with interventions.  My son who has Down sydnrome, has met every one of his milestones on time if not ahead of the typical time frames.  While this might not be the "norm", it is probably in part from his participation with the Early Intervention personnel.  I encourage your Moms friend to reserach all she can about genetic information, more importantly remember her baby is a baby first.  And with the proper care and love, will flourish no matter what.
If she is interested, she can contact me for either support or information directly through my blog:  http://welcometoourhouse-myjournal.blogspot.com (on my profile page is my email).
There in the blog she can see pictures, videos and information relating to what it is like to have a baby with a genetic abnormality.  

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator
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1227139_tn?1367231533
Continued from comment above,

MirandaR,
I wanted also to mention, genetic abnormalities are not considered a diseases, they are usually considered a syndrome or if no specific name given a genetic abnormality.

I hope this helps.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator
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