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2008 National DNA Day Online Chatroom Transcript

This is just one question from an archive of the National DNA Day Moderated Chat held in April 2008. The NHGRI Director and many genomics experts from across NHGRI took questions from students, teachers and the general public on topics ranging from basic genomic research, to the genetic basis of disease, to ethical questions about genetic privacy.


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What is Fragile X?
     Donna Krasnewich, M.D., Ph.D.: Investigating diseases resulting from abnormal metabolism of carbohydrates. Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and mental retardation. Usually, males are more severely affected by this disorder than females. Many males with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, prominent jaw and forehead, unusually flexible fingers, and enlarged testicles (macroorchidism) after puberty. Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females. For more information about Fragile X syndrome go to the National Library of Medicine web site at www.nlm.nih.gov
SD Citra Kasih (6th grade student)


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