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Birth Defects - Genetic

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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
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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

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.

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

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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Dr. Karthika Karthikeyan
Dr. Karthika  Karthikeyan
MBBS, DNB, MRCPCH
9 years experience
Apollo speciality hospital, Vanagaram
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Dr. Vishal Parmar
Dr. Vishal Parmar
MBBS, DCH, MRCPCH, Fellow In Neonatal Medicine
10 years experience
Shri Hari Child Clinic and Vaccination Centre, Borivali East
+ 1 more
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Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.

Comments

mani-

MY SON IS DOWNSYNDROME BABY. HE IS 2 YEARS OLD.F\HE IS ENT, EYES ,HEART CHECK UP IS NORMAL. HE IS SLOW THE WALK and SPEECH. ALL ACTIVITIES 6 MONTH SLOW FURTHER INFORMATION PLZ. DONT IDEA FOR DOWNSYNDROME

Advancells

Hi Mani, birth defects can be eradicated through proper care & treatment. I think you should consult an expert physician and get the right help for your son. Hopefully he will be fine soon. God Bless!!

honnet

The Content/ remarks were helpful. From http://www.hyderabadonnet.com

CrystalDivine

Women can have Hemophilia as well as men. It is very rare but, It is possible.

paschar

We found no mention of the G380R mutation factor in FGFR3 and other related conditions i.e. spinal stenosis, Kartagener`s Syndrome. Paschar

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