Constitutional deletions

• constitutional 18q deletion
  28 November 2011

  Synopsis
  Beckwith-Wiedemann syndrome (BWS)
  References
  Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion. Brewer CM, Lam WW, Hayward C, Grace E, Maher ER, FitzPatrick DR. J Med Genet. 1998 Feb;35(2):162-4. PMID: #9507400# [Free]

• del(7)(q35—>qter)
  11 July 2010

  Pathology
  7q terminal deletion growth retardation microcephaly coloboma of papilla ptosis hearing loss urinary tract anomalies partial agenesis of sacrum hypotonia neuropsychomotor delay odontoid hypoplasia esophageal stenosis (#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 GA. Eur J Med Genet. 2010 Jun 22. PMID: (...)

• dicentric Y chromosome
  19 April 2010

  idic(Y), +idic(Y)(p11.32)

• microdeletion syndromes
  2 July 2008

  Types
  3q13 microdeletion syndrome
  3q29 microdeletion syndrome
  Angelman syndrome (15q11q13)
  Cri-du-chat syndrome (5p15.2)
  DiGeorge syndrome (22q11.2)
  isolated lissencephaly (17p13.3)
  Kallman syndrome (Xp22.3)
  Mille-Dieker syndrome (17p13.3)
  Prader-Willi syndrome (15q11q13)
  SRY deletion (Yp11.3)
  Williams syndrome (7q11.2)
  Wolf-Hirschorn syndrome (4p16.3)
  X-linked ichtyosis (...)

• 3q13 microdeletion syndrome
  16 June 2008

  proximal 3q microdeletion syndrome

• constitutional translocations
  28 January 2008

  See also
  chromosomal translocations tumoral translocations

• segmental duplications
  18 November 2006

  References
  Bailey JA, Eichler EE. Primate segmental duplications: crucibles of evolution, diversity and disease. Nat Rev Genet. 2006 Jul;7(7):552-64. PMID: #16770338#

• ring chromosomes
  19 March 2006

  ring chromosome

• Inversions
  19 March 2006

  inv(), inversion

• mosaic trisomy 9 syndrome
  29 June 2005

  Synopsis

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