Trisomy 18 Syndrome

Reference work entry

Edwards et al. and Smith et al. independently described trisomy 18 syndrome in 1960 (Edwards et al. 1960; Smith et al. 1960). It is the second most common autosomal trisomy after trisomy 21. Prevalence is approximately 1 in 6,000–8,000 live births.

Synonyms and Related Disorders

Edwards syndrome

Genetics/Basic Defects

  1. 1.
    Caused by an extra chromosome 18 resulting from nondisjunction in meiosis
    1. a.

      Maternal origin of an extra chromosome 18 in 90% of cases

       
    2. b.

      An error in maternal meiosis II is the most frequent cause of nondisjunction for chromosome 18, unlike all other human trisomies that have been studied, which show a higher frequency in maternal meiosis I.

       
    3. c.

      Increased incidence with advanced maternal age

       
     
  2. 2.
    Types of trisomy 18
    1. a.

      Full trisomy 18 in 95% of cases

       
    2. b.

      Rare mosaicism and translocation cases: translocation trisomy giving rise to partial trisomy 18 syndrome

       
     
  3. 3.

    Preponderance of females with trisomy 18 in liveborns (sex ratio 0.63) (sex ratio defined as the...

Keywords

Club Foot Esophageal Atresia Double Outlet Right Ventricle Cerebellar Hypoplasia Choanal Atresia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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