Doctor insights on:
Karyotype Of Achondroplasia
Chromosome study: A karyotype is a visual presentation of the chromosomes present in each cell, usually derived from blood lymphocytes. The cells are grown in tissue culture, then arrested in the stage of separation (mitosis), then dropped on a glass slide from about 2 feet, which breaks them open; a dye is added to make stain them, a photo taken, then arranged into their 23 pairs, then studied for anomalies. ...Read more
Karyotyping is a test to examine chromosomes in a sample of cells, which can help identify genetic problems as the cause of a disorder or disease. This test can:
•count the number of chromosomes
•look for structural changes in chromosomes
the test can be performed on almost any tissue, including:
•placenta. ...Read more
One sample at a time: A blood sample is spun down and the white cells are separated into at least 3 tissue culture media sets. An amnio sample is spun down, the cells resuspended and divided into three tissue culture sets. Of primary importance: only one sample is ever set up at a time. No other sample is near another until the cultures have been completely set up and labeled. That prevents mixing up two babies by mistake ...Read more
What happens if we assume that the vitiligo is generic disorder then can we check if it's a dominant, recesive and carrier etc. Using karyotyping.?
Autoimmune: Vitiligo is usually considered an autoimmune problem. If you want to find out whether it is genetic, you will need to get a detailed history on family members with this problem. I am not aware of any genetic markers uncovered thus far. Nonetheless if there has been no history of such a disorder among your immediate family members within 3 generations, genetic study would be meaningless. ...Read more
Dwarfism: About 1 in 20, 000 births. Genetic defect causes poor bone growth. Affected persons have a large head with small bones in the mid face. The arms and legs are short, but the trunk is long. Intelligence is usually normal, but walking is often delayed. They can have problems with the spinal cord being compressed. They can have children, but there is a high risk >50% of passing the defect to offspring. ...Read more
It occurs as a sporadic mutation in approximately 75% of cases (associated with advanced paternal age) or may be inherited as an autosomal dominant genetic disorder.
Achondroplasia can be detected before birth by the use of prenatal ultrasound. A dna test can be performed before birth to detect homozygosity, wherein two copies of the mutant gene are inherited. Also we could use radiology findings. ...Read more
Dwarfism: Achondroplasia, is a birth defect resulting in dwarfism. Dwarfs, or little people have this birth defect. It results from a chromosome problem. Those born with this defect can have multiple problems including difficulty breathing, this can be serious and certain types can be fatal. ...Read more
an average-size trunk.
An enlarged head (macrocephaly) with a prominent forehead.
Short fingers. The ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance.
Short arms and legs with particularly short upper arms and thighs.
People with achondroplasia are generally of normal intelligence. ...Read more
Fetaure variations: About 90% represent new mutations but in those studied in great detail, all have the same base pair substitution in the gene. The gene regulating a fibroblast growth factor on chromosome 4 is the issue involved. There is some variation in the features of every case as there would be in people with no mutation. ...Read more
Short limbs: Achondroplasia, or more commonly known as dwarfism, is one of the more common congenital syndromes. Occurring about 1:28, 000 live pregnancies, people with this syndrome have normally sized trunk with short arms and legs, and a normal to slightly large-sized head. You can find pictures of people with achondroplasia online for a visual answer. Look up www. Garyparker. Com for pix ...Read more
Some normal span...:
Achondroplasia affects about 1 in 15, 000 to 1 in 40, 000 babies. Most babies born with achondroplasia live a normal life span, but a few may have severe bone problems that can lead to death.
See for more info:
http://www. Marchofdimes. Com/baby/achondroplasia. Aspx. ...Read more
Abnormal bone growth: That is caused by a mutation affecting fibroblast growth factor and results in shortened bones. It is one of the major causes of dysproporotinate dwarfism. The mutation can be spontaneous, especially in advanced paternal age, or inherited as an autosomal dominant. It especially affects the proximal limb bones, prominent forehead, increased lordosis or kyphosis and either bowed or knock knees. ...Read more
10 years less: A 2007 study (am j med genet a. 2007 nov 1;143a (21):2502-11.) found that due to cardiovascular and other complications, life expectancy in this disorder is about 10 years less than the average population (so, late 60s). ...Read more
One type: Most believe that there is one type of achondroplasia. This leads to the improper conversion of cartilage to bone. This results in the short stature seen in these patients. The is a gene fgfr3 that makes a protein product that is responsible for the conversion of cartilage to bone. There are believed to be two different mutations. However, the end result is the same. ...Read more
Dwarfism.: Achondroplasia, the most common cause of nonlethal short limb dwarfism is characterized by macrocephaly (disproportionately large head) and rhizomelia (short proximal long bones in amrs/legs). Heterozygous individuals have a normal life span and normal intelligence. Homozygous achondroplasia is parinatally lethal. Incidence of nonlethal form:1:10, 000-1:30, 000. Typically de novo paternal mutations. ...Read more