Chromosomal diseases

• ploidy
  4 July 2016

  |WP
  Definition : Ploidy is the number of sets of chromosomes in a cell.
  Pathology
  aneuploidy
  polyploidy triploïdy
  See also
  haploid
  diploid

• chromosomal anomalies
  4 July 2016

  Chromosome abnormality WKP
  Definition: Chromosomal diseases are caused by chomosomal anomalies .
  A chromosome abnormality, disorder, anomaly, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA. It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes.
  Chromosome mutation was formerly used in a strict sense to mean a change in a chromosomal segment, involving more than one gene.
  Chromosome anomalies (...)

• mosaicism 45X/47XXX
  6 April 2011

  Turner’s syndrome mosaicism 45X/47XXX

• 16p11.2 rearrangements
  30 October 2010

  16p11.2 rearrangements
  Synopsis
  developmental delay
  cognitive impairment
  autism spectrum disorder
  behavioral problems (especially attention-deficit hyperactivity disorder)
  seizures
  obesity
  dysmorphic features
  abnormal head size
  language delay
  learning disabilities
  autism
  academic deficits
  behavioral problems
  long cervicothoracic syringomyelia
  long thoracolumbar syringomyelia
  syringomyelia associated with Chiari malformation
  Cytogenetics
  16p11.2 deletion (...)

• palindrome-mediated genomic instability
  24 August 2010

  Palindrome-mediated recurrent translocation

• 17p13.3 deletion syndrome
  11 July 2010

  Miller-Dieker syndrome, MDS,

• sex-determining region Y sequence
  19 April 2010

  See also
  sex-determining regions
  Y chromosome
  References
  Laparoscopic diagnosis and treatment of a phenotypic girl with mosaic 45,XO/46,X,idic(Y) mixed gonadal dysgenesis. Mizuno K, Kojima Y, Kurokawa S, Mizuno H, Kohri K, Hayashi Y. J Pediatr Surg. 2009 Jan;44(1):e1-3. PMID: #19159702#

• Turner syndrome
  5 March 2008

  Turner syndrome is a genetic disorder that affects a girl’s development. The cause is a missing or incomplete X chromosome.

• cryptic subtelomeric rearrangements
  26 October 2007

  Cryptic subtelomeric rearrangements are undetectable using conventional cytogenetic methods.
  They have been observed in the thalassaemia/MR syndrome (16pter), Wolf-Hirschhorn syndrome (4pter), Miller-Dieker syndrome (17pter), and the cri du chat syndrome (5pter).
  Moreover, cryptic subtelomeric rearrangements have been found to account for 5-7.4% of moderately or severely mentally handicapped children.
  References
  Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire (...)

• 46,XX/69,XXX mixoploidy
  19 December 2006

  46,XX/69,XXX diploid-triploid mixoploidy, 46,XX/69,XXX diploid-triploid mosaicism

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