Doctor Q&A for Dr. Ira Salafsky

A 40-year-old member asked:
Dr. Ira Salafsky
Clinical Genetics 58 years experience
Depends on sex: If the unaffected twin is male he would not carry the gene and could not pass it on to his children. If the unaffected twin was female she could be a ... Read More
Created for people with ongoing healthcare needs but benefits everyone.
A 29-year-old member asked:
Dr. Ira Salafsky
Clinical Genetics 58 years experience
Autosomal recessive: Both parents must carry a mutation in the hexosaminidase a gene. They would have a one in four risk in each pregnancy of having an affected baby.
Created for people with ongoing healthcare needs but benefits everyone.
A 36-year-old member asked:
Dr. Ira Salafsky
Clinical Genetics 58 years experience
Chromosomal analysis: Kleinfelter syndrome is caused by an extra x chromosome in males (47, xxy). It can be suspected on physical exam because of several somatic features ... Read More
Created for people with ongoing healthcare needs but benefits everyone.
A 53-year-old member asked:
Dr. Ira Salafsky
Clinical Genetics 58 years experience
Yes: Mutational analysis in the hemophilia gene through amniocentesis or cvs testing is available.
Created for people with ongoing healthcare needs but benefits everyone.
A 40-year-old member asked:
Dr. Ira Salafsky
Clinical Genetics 58 years experience
13 trisomy: Patau syndrome is caused by13 trisomy. It can be suspected by find the characteristic malformations including, cleft lip/palate/ eye and ear abnormali... Read More
Created for people with ongoing healthcare needs but benefits everyone.
A 23-year-old member asked:
Dr. Ira Salafsky
Clinical Genetics 58 years experience
No: An individual must give permission to have genetic testing performed. Carrier testing for genetic disease is usually not done in children until they ... Read More
Created for people with ongoing healthcare needs but benefits everyone.
A 35-year-old member asked:
Dr. Ira Salafsky
Clinical Genetics 58 years experience
It varies: If parents have had one child with a neural tube defect their risk of having another child with a defect is about 3 %. If they have had two children ... Read More
Created for people with ongoing healthcare needs but benefits everyone.
A 24-year-old member asked:
Dr. Ira Salafsky
Clinical Genetics 58 years experience
Never: Prenatal knowledge that a baby will be born with Down syndrome will always be useful. Testing early in the pregnancy will allow parents to decide whet... Read More
Created for people with ongoing healthcare needs but benefits everyone.
A 37-year-old member asked:
Dr. Ira Salafsky
Clinical Genetics 58 years experience
Yes: Some features of Down syndrome are seen in other malformation syndromes. The hypotonia, congenital heart disease and dermatoglyphic abnormalities are ... Read More
Created for people with ongoing healthcare needs but benefits everyone.
A 36-year-old member asked:
Dr. Ira Salafsky
Clinical Genetics 58 years experience
Laboratory testing: Cvs sampling after 10 weeks of gestation can obtain tissue for testing. The tests usually done are chromosomal analysis or mutational analysis of a sp... Read More
Created for people with ongoing healthcare needs but benefits everyone.
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