Chromosomal diseases

Articles

• 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 (...)

• Smith-Magenis syndrome
  20 November 2003

  Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by distinct craniofacial features and neurobehavioral abnormalities usually associated with an interstitial deletion in 17p11.2.
  Smith-Magenis syndrome (SMS) is rare (prevalence 1 in 25 000) and is associated with psychomotor delay, a particular behavioural pattern and congenital anomalies.
  SMS is often due to a chromosomal deletion (...)

• trisomy 21
  12 November 2004

  Down syndrome, trisomy 21 disease, trisomy 21 syndrome

• trisomy 13
  12 January 2005

  Patau syndrome

• triple X syndrome
  26 February 2008

  trisomy X; 47,XXX; triploX

• Klinefelter syndrome
  13 June 2003

  Klinefelter’s syndrome

• 4p- syndrome
  1 October 2003

  Wolf-Hirschhorn syndrome

• TAR syndrome
  12 October 2007

  thrombocytopenia-absent-radius syndrome, thrombocytopenia-absent tetraphocomelia syndrome

• monosomy X
  25 January 2005

  Turner syndrome, constitutional monosomy X, Turner-Albright syndrome, Ullrich-Turner syndrome

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

  21q22 deletion syndrome

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