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4 days ago · Down syndrome occurs in about 1 in roughly every 700–1,100 live births. The incidence of the disorder increases markedly in the offspring of women over age 35. For example, the incidence of the disorder in the offspring of women under age 30 is less than 1 in 1,000, whereas its incidence in the offspring of women over age 40 can range from ...
14 hours ago · Case Report: A ۳-year-old pediatric male patient from Venezuela is referred to genetic counseling due to neurodevelopmental delay, microcephaly and dysmorphisms. The initial diagnostic impression consisted of Williams syndrome. Further studies revealed mild supravalvular stenosis, but no important changes in brain imaging or laboratory analysis.
14 hours ago · دانلود و دریافت مقاله Radio-Tartaglia Syndrome: A Rare Cause of Delay in Neurodevelopment – A Case Report
2 days ago · Down Syndrome is caused by the presence of an extra copy of chromosome 21, also known as trisomy 21. In most cases, this extra chromosome is acquired spontaneously during the formation of the sperm or egg cell, leading to a zygote with three copies of chromosome 21 instead of the normal two. This is known as non-disjunction.
3 days ago · 6. Sergei Rachmaninov (1873-1943) Nationality: Russian. Michael Phelps is definitely a name to remember when you talk about famous people having Marfan syndrome who made great name in music, but Sergei Rachmaninov is another big name with Marfan syndrome who was a great conductor, composer and pianist.
