A century after Down syndrome was first described, scientists discovered that the root cause of this disorder is a condition called trisomy 21. What strides in research have been made since then?

What is the structure of a chromosome? Why does the total number of chromosomes in a cell matter? Learn how chromosomes self-organize within single cells, and how these patterns help us detect ...

Recognition of the clinical features of Trisomy 13 syndrome, a common autosomal trisomy, provides the basis for diagnostic testing and counseling of families. This article provides a systematic ...

SINCE the original description of the syndrome of multiple congenital anomalies associated with trisomy of the number 18 chromosome (E-trisomy) by Edwards et al. 1 in 1960 approximately 60 ...

The recurrence risk with trisomy is 1% to 2% or the maternal age risk, whichever is greater. [2] There is a recurrence risk of 5% to 10% for an affected live-born infant in cases when a parent has ...