Concurrent psu dic(21)(q22.3) and t(13;17)(q14.1;p12) in a mosaic Down’s syndrome patient: review of thirty-one similar dicentrics

Rivera, Horacio; Vásquez-Velásquez, Ana I.

doi:10.1007/s12041-014-0329-4

Cited by 1 publication

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“…The “chromosomal (micro‐) aberrations in at least 11 patients with the full clinical picture of the VATER/VACTERL association” [Reutter and Ludwig, ] were on ten different chromosomes. Causation with aneuploidy in a patient ascertained for an abnormality needs to be assessed cautiously [Rivera and Vasquez‐Velasquez, ], and the variety of chromosomal findings seem to suggest either co‐incidence or non‐specific risks with such aberrations.…”

Section: Genes and Vacterlmentioning

confidence: 99%

The VACTERL Association as a disturbance of cell fate determination

Lubinsky

2015

American J of Med Genetics Pt A

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Cases diagnosed as the VACTERL Association are heterogeneous, and can involve other associations arising from different developmental processes with midline effects. However, these often lack the classic radial ray anomalies that help make VACTERL distinct. A more specific association can be delineated based on teratogenic disturbances affecting vulnerabilities associated with the establishment of cell fate through positional information, with two basic weaknesses: (i) The midline, where topological properties such as reduced lateral information should make information losses more likely; (ii) Increased distal sensitivity at the end of a morphogen gradient in the limbs, where both duplications and deficiencies can arise from similar disturbances. Vertebral, cardiac, anal-rectal, and tracheo-esophaeal findings are primary midline derivatives. While the kidneys are bilateral, they can be influenced by the midline, although there may also be effects on the ureteral buds as distal structures. The pre-axial area is the most distal in limb development, giving radial/tibial deficiencies and duplications. Alternatively, spina bifida and orofacial clefts originate from bilateral structures that are less likely to be affected by problems with midline determination, explaining the rarity of these disorders with VACTERL. Suggested human genetic models typically involve the midline, but lack radial findings, and true Mendelian forms are rare. However, developmental genes such as Sonic Hedgehog may have a pathogenetic role without being causal.

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Section: Genes and Vacterlmentioning

confidence: 99%

The VACTERL Association as a disturbance of cell fate determination

Lubinsky

2015

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

Concurrent psu dic(21)(q22.3) and t(13;17)(q14.1;p12) in a mosaic Down’s syndrome patient: review of thirty-one similar dicentrics

Cited by 1 publication

References 22 publications

The VACTERL Association as a disturbance of cell fate determination

The VACTERL Association as a disturbance of cell fate determination

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