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Cleidocranial Dysplasia - Glossary

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Cleidocranial Dysplasia - Glossary

Mosaic - An individual with two cell types or more, comprising of different chromosome number or structure

Genetic Counselling - A communicative procedure that undertakes to deal with the problems that rise in a family with the occurrence or the risk of occurrence of a genetic abnormality

Pedigree - A pedigree involves recording a family's history and making use of a standard set of symbols to represent the status of each member of the family
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Allele - An allele is an alternative form of a gene loated on a given locus of a chromosome

Gene - Genes are located on the chromosomes and carry the information representing a protein

Chromosomes - Chromosomes are structures made up of DNA and proteins found in the cells of all organisms.The number of chromosomes is species- specific.In humans it is 46.

DNA - The DNA is the basic unit of heredity and is known as the blue print of life.It carries the genetic codes which stores the necessary information for all organisms.

Genotype - Genotype indicates the genetic constitution of an organism

Phenotype - Phenotype refers to the physical appearance of an organism which is controlled by the genotype and the enviornment

Haploid Cell - A cell having only one set of chromosomes,ie.23 numbers in humans

Diploid Cell - Having two sets of chromosomes,46 numbers in humans

Hybrid - An offspring of parents belonging to two different species,example mule which is the offspring of a horse and donkey

Mutation - An inheritable change in the gene or the chromosome

Wild Type - An organism having a normal phenotype

Mutant - An organism harboring a mutation
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Trisomy - A condition ,which arises due to the presence of an extra chromosome.An example is Down syndrome, where the individual has an extra chromosome 21

Mitosis - A division by which the cells reproduce, wherein the resultant cells are the replica of the parent cell.

Meiosis - A special kind of cell division,called reduction division, that takes place in the testes and the ovaries, which produces eggs and sperms that are haploid

Consanguinous marriage - A marriage between two closely related individuals

Euploidy - When an organism has the regular chromosome number,example 46 numbers in humans, it is euploid.

Aneuploidy - When an organism has an abnormal number of chromosomes as in Down Syndrome,it is known as aneuploidy.

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Comments

sue09

my son is 12 years old he was born with ccd he wants to play football next year i am not crazy about it but now iam worried about his furture will he be able to get a job with having ccd
right now i can't find any body with theis kind of information please tell me what i am looking forward to when he gets older

c3333

yea he will be fine im 16 and i have a job but it may be hard

angelatmyside

I am 31 years old and a mum.I, too have ccd. I often worried about what I could and couldn't do. Here I am. Don't stop your son from doing the things that he really wants to do. Let him fly and if, only if, catch him if he should fall. I doubt he will fall. I bet all through his life he has had to adapt and by the age of 16 he knows too well what he can and can't do. What we can't do we make up with what we can do. I know it's hard I have seen my mum's tears fall many a time with fear for me but I assure you what doesn't kill you just makes you so much stronger, not just for you but for your son too. xx

asajael

I have CCD. This biggest issue for me is the lack of structure. Therefore my arms are weak and hurt all the time. My back will hurt unbelievable if I stand in one place fore more than 5 minutes. I wish the educated doctors would get educated about this. I am so frustated with the lack of information and what I do find is very under ratedly correct. The biggest problem is not my mouth. This about this: if you were to build a house out of 1"x1"s and take a chuck or two out of it here and there... how long do you think it would last??? Do you really think with the shoulders not being formed correctly that it would not have an effect. Did you have to think about that first? Is there anyone out there who has some common sense on the matter???

guest

I have CCD and the information on this site is incorrect. To state that one has to have dentures in today's medical advancements is so sad. I am moderator of a yahoo Cleidocranial Dysplasia site and the truth is this is no longer a fact. Myself and my children, plus many others have been successfully treated and have their own their own gorgeous smiles. Making such a broad statement makes people who find out their child has CCD and searching for answer and have no idea what to expect with CCD feel like there is no hope and there is.

guest

Anita, Could you please let me know, what kind of treatment you have gone through?

Cia722

What can be done about the teeth the will not grow back once removed?

mkhfsd

your message give us hope. I am uncle of two CCD effected nephew. My family is worried about their growth. We are living in Pakistan and doctor identified the problems through symptoms like missing bone in shoulders, child hood teeth are not dropped yet at the age of 10. 2nd boy age is 5 and his legs has bend. can you pls suggest some thing

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