Chromosomal diseases

Articles

• Klinefelter syndrome
  13 June 2003

  Klinefelter’s syndrome

• trisomy 22
  9 May 2005

  Trisomy 22 is frequently seen in first trimester miscarriages but is extremely rare in life-borns. Trisomy 22 is commonly found among spontaneous abortions, second in frequency of occurrence only to trisomy 16. Most earlier reports of surviving trisomy 22 cases in the literature are thought to represent the product of unbalanced 11;22 translocations or the result of undetected mosaicism, since this condition is thought to manifest early embryonic or fetal lethality.
  Types
  non-mosaic (...)

• trisomy 13
  12 January 2005

  Patau syndrome

• triple X syndrome
  26 February 2008

  trisomy X; 47,XXX; triploX

• mosaic trisomy 9 syndrome
  29 June 2005

  Synopsis

• 4p- syndrome
  1 October 2003

  Wolf-Hirschhorn syndrome

• trisomy 21
  12 November 2004

  Down syndrome, trisomy 21 disease, trisomy 21 syndrome

• 17p13.3 deletion syndrome
  11 July 2010

  Miller-Dieker syndrome, MDS,

• del(21)(q22) syndrome
  30 October 2010

  21q22 deletion syndrome

• Wolf-Hirschhorn syndrome
  5 January 2008

  WHS

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