Chromosomal anomalies

Articles

• 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 (...)

• 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 (...)

• trisomy 8 mosaicism
  1 December 2003

  T8M, partial trisomy 8, . Differing proportions of 47,XY, +der(8) and 46 XY were present in the different fetal tissues sampled. The highest proportion of 47,XY,+der(8)

• ring chromosome 17
  5 November 2008

  Synopsis
  hypotonia
  dysmorphia (facial dysmorphism)
  mild-to-moderate mental retardation
  Variants
  mosaic ring chromosome 17 (#12774038#)
  References
  Dupont C, Pipiras E, Chantot-Bastaraud S, Verloes A, Baumann C, Wolf JP, Benzacken B. CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature. Eur J Hum Genet. 2003 Jun;11(6):452-6. PMID: (...)

• 3q29 microdeletion syndrome
  6 June 2005

  Synopsis
  mild-to-moderate mental retardation
  slightly dysmorphic facial features long and narrow face short philtrum high nasal bridge autism gait ataxia chest-wall deformity long and tapering fingers
  microcephaly
  cleft lip and palate
  horseshoe kidney
  hypospadias
  ligamentous laxity
  recurrent middle ear infections
  abnormal pigmentation
  Genes involved
  The deletion encompasses 22 genes, including PAK2 DLG1
  References
  Willatt L, Cox J, Barber J, Cabanas ED, Collins A, (...)

• del(1)(p34.3p36.11)
  3 February 2006

  Synopsis
  congenital cardiac malformations cardiomegaly Ebstein anomaly secundum atrial septal defect subendocardial fibroelastosis
  pulmonary lymphangiectasis
  high arched palate
  short neck
  bilateral long proximally implanted thumbs
  References
  Yang H, Lee CL, Young DC, Shortliffe M, Yu W, Wright JR. A rare case of interstitial del(1)(p34.3p36.11) diagnosed prenatally. Fetal Pediatr Pathol. 2004 Jul-Aug;23(4):251-5. PMID: (...)

• del(14)(q32.2)
  18 December 2005

  14q32.2 constitutional deletion

• isochromosomes
  25 August 2004

  Isochromosome formation results when one arm of a chromosome is lost and the remaining arm is duplicated, resulting in a chromosome consisting of two short arms only or of two long arms.
  An isochromosome has morphologically identical genetic information in both arms.
  The most common isochromosome present in live births involves the long arm of the X and is designated i(X)(q10). The Xq isochromosome is associated with monosomy for genes on the short arm of X and with trisomy for genes on (...)

• t(9;12)(p21;q13)
  3 September 2007

  A large number of nevi (LNN) is a high risk phenotypic trait for developing cutaneous malignant melanoma (CMM). A t(9;12)(p21;q13) balanced chromosome translocation has been described in a family with LNN and CMM.
  Molecular bioology
  Molecular characterization of the 9p21 breakpoint identified a novel gene C9orf14 expressed in melanocytes disrupted by the translocation. (#17099875#)
  References
  Pujana MA, Ruiz A, Badenas C, Puig-Butille JA, Nadal M, Stark M, Gomez L, Valls J, Sole X, (...)

• i(17q)
  22 September 2004

  isochromosome 17q, 17q+

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