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karyotype of achondroplasia

A 54-year-old member asked:
Dr. Richard Roberts
45 years experience in Pediatrics
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 c ... Read More

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A 52-year-old member asked:
Dr. Keith Vaux
26 years experience in Clinical Genetics
Need more info: Not sure of your question. Do you have a specific finding you would like explained?
A 36-year-old male asked:
Dr. David Rosenfeld
26 years experience in Pain Management
See below: 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. Thi ... Read More
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A 45-year-old member asked:
Dr. Richard Roberts
45 years experience in Pediatrics
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 resus ... Read More
A 37-year-old member asked:
Dr. John Chiu
Dr. John Chiu answered
56 years experience in Allergy and Immunology
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 ... Read More
A 44-year-old member asked:
Dr. Alan Ali
Dr. Alan Ali answered
31 years experience in Psychiatry
Achondroplasia: Birth defect that affects bone growth, leading to Dwarfism.
A 38-year-old member asked:
Dr. Kelley Clark
30 years experience in Obstetrics and Gynecology
A type of dwarfism: Achondroplasia is a type of dwarfism associated with shortened bones, large head and other findings. Most affected people have no family history (75-8 ... Read More
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A 39-year-old member asked:
Dr. Patrick Ramsey
26 years experience in Maternal-Fetal Medicine
1:25000: The prevalence is approximately 1 in 25, 000. It is a common cause of dwarfism however.
A 54-year-old member asked:
Dr. Gregory Mosolf
24 years experience in Pediatrics
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 l ... Read More
A 46-year-old member asked:
Dr. Jay Park
Dr. Jay Park answered
49 years experience in Pediatrics
Autosomal dominant: Achondroplasia is inherited in autosomal dominant fashion. Increased incidence has been observed in offsprings from fathers of advanced age.

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