Chromosomal diseases

Articles

• Klinefelter syndrome
  13 June 2003

  Klinefelter’s syndrome

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

  21q22 deletion syndrome

• 17p13.3 deletion syndrome
  11 July 2010

  Miller-Dieker syndrome, MDS,

• TAR syndrome
  12 October 2007

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

• Wolf-Hirschhorn syndrome
  5 January 2008

  WHS

• triple X syndrome
  26 February 2008

  trisomy X; 47,XXX; triploX

• monosomy X
  25 January 2005

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

• trisomy 13
  12 January 2005

  Patau syndrome

• 4p- syndrome
  1 October 2003

  Wolf-Hirschhorn syndrome

• 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 (...)

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