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    STUDIA BIOLOGIA - Ediţia nr.2 din 2014  
         
  Articol:   REVIEW - THE MOST COMMON HUMAN AUTOSOMAL TRISOMIES.

Autori:  GYÖNGYI SZÉKELY.
 
       
         
  Rezumat:  VIEW PDF: REVIEW - THE MOST COMMON HUMAN AUTOSOMAL TRISOMIES

Trisomy is a chromosomal abnormality, characterized by the appearance of an extra chromosome in the genetic material. Usually, human autosomal trisomies are not compatible with live birth, but there are some exceptions of live born trisomies. The most common live born trisomies are: Down syndrome, Edwards syndrome and Patau syndrome. All of these trisomies cause growth retardation, mental retardation and several congenital abnormalities. All of them show distinctive features. Autosomal trisomies are caused especially by chromosomal nondisjunction during meiosis. Advanced maternal age is considered to be a main reason for non-disjunction disorder, but understanding the mechanisms of this effect still remains unclear. Influence of paternal age on trisomies is controversial, but it was demonstrated that advanced paternal age together with maternal age has a significant role in occurrence of Down syndrome.

Keywords: Down syndrome, Edwards syndrome, maternal age, Patau syndrome, trisomy.
 
         
     
         
         
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