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Posts Tagged ‘velocardiofacial syndrome’

Human facial configuration  is formed by fusion and absorption of  different  tissue structures in a preplanned genetically programmed planes . The developing cardiogenic area  lies right in the cranial end of the  neural tube which enlarges to grow as face .The timing as well the location of facial plates are closely related to cardiac development. As the head end unfolds  to take it’s shape , the heart folds to form the chambers and the great vessels , septum and valves are subsequently  cleaved . Even minor genetic errors in the codes that  initiate and coordinate  the bio-genetic forces in the cardiogenic  area ,  results in simultaneous defects in  facial as well as cardiac contour .

There is a proposed embryonal classification for congenital heart disease (Clarkes ) The genetic  defect responsible for cono-truncal anomalies are located in  chromosome Q22.

 

cono truncal facies heart face abnormality catch 22 tof cardiac looping

 

cardiac development embryology of heart

Reference

1.Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.J Med Genet. 1993 Oct; 30(10): 822–824

Parallel reading
geentic basis of face development cono truncal facies

It is stunning to note some of the plant  species (Chinese Ginseng)  express unusual human phenotypes  , indicating the genetic codes responsible for  such things are beyond human comprehension . If one can  demystify  the genetic basis of this  perfectly smiling fruit plant with a human face ,  we may also know  what makes  it to go awry in human CHD  !

ginseng fruit cono truncal facies geentics of facial development

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