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 (...)

• trisomy 13
  12 January 2005

  Patau 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 21
  12 November 2004

  Down syndrome, trisomy 21 disease, trisomy 21 syndrome

• TAR syndrome
  12 October 2007

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

• Wolf-Hirschhorn syndrome
  5 January 2008

  WHS

• 4p- syndrome
  1 October 2003

  Wolf-Hirschhorn syndrome

• Klinefelter syndrome
  13 June 2003

  Klinefelter’s syndrome

• mosaic trisomy 9 syndrome
  29 June 2005

  Synopsis

• 7q terminal deletion syndrome
  11 July 2010

  Clinical synopsis
  esophageal stenosis
  growth retardation
  microcephaly
  coloboma of papilla
  ptosis
  hearing loss
  urinary tract anomalies
  partial agenesis of sacrum
  hypotonia
  neuropsychomotor delay
  odontoid hypoplasia
  esophageal stenosis (#20601258#)
  Anomalies
  7q terminal deletion del(7)(q35—>qter) (#20601258#)
  References
  Esophageal stenosis in a child presenting a de novo 7q terminal deletion. Zen PR, Riegel M, Rosa RF, Pinto LL, Graziadio C, Schwartz IV, Paskulin (...)

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