Chromosomal diseases

Articles

• 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 (...)

• TAR syndrome
  12 October 2007

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

• Wolf-Hirschhorn syndrome
  5 January 2008

  WHS

• trisomy 21
  12 November 2004

  Down syndrome, trisomy 21 disease, trisomy 21 syndrome

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