Constitutional trisomies

• trisomy 20 mosaicism
  18 June 2008

  mosaic trisomy 20

• triple X syndrome
  26 February 2008

  trisomy X; 47,XXX; triploX

• 5q trisomy
  25 October 2007

  Synopsis
  craniosynostosis (#17955513#)
  Target genes
  MSX2 (#17955513#)
  References
  Wang JC, Steinraths M, Dang L, Lomax B, Eydoux P, Stockley T, Yong SL, Van Allen MI. Craniosynostosis associated with distal 5q-trisomy: Further evidence that extra copy of MSX2 gene leads to craniosynostosis. Am J Med Genet A. 2007 Oct 22; PMID: #17955513#

• trisomy 6 mosaicism
  8 May 2007

  partial trisomy 6

• constitutional autosomal trisomies
  31 May 2006

  Types
  trisomy 21
  trisomy 22
  trisomy 18
  See also
  chromosomes chomosomal anomalies constitutional chromosomal anomalies constitutional gonosomal trisomies

• trisomy 9p mosaicism
  5 January 2006

  constitutional partial trisomy 9p, partial trisomy 9p syndrome, partial trisomy 9p

• partial 1q trisomy mosaicism
  31 October 2005

  Constitutional partial 1q trisomy mosaicism, mosaic 1q duplication

• 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 (...)

• constitutional trisomies
  8 May 2005

  constitutional trisomy; trisomies

• trisomy 18
  27 January 2005

  Edward Syndrome, trisomy E
  Definition: Trisomy 18 (1/5000 live births) presents with a great phenotypic variability. Intrauterine growth retardation (IUGR) with normal or increased amniotic fluid volume, craniofacial dysmorphism (strawberry-shaped head, micrognathia, choroid plexus cyst), congenital heart disease, omphalocele, large cisterna magna, and abnormal extremities (clenched hands and rocker-bottom feet) are frequently observed anomalies.
  At least 30% of affected fetuses have (...)

0 | 10