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De novo isochromosome 18p in a female dysmorphic child
TLDR
The present investigation reports ade novo i(18p) in a female dysmorphic child, which could be due to the somewhat advanced maternal age and/or expression of recessive genes in the proband, who is the progeny of consanguineous marriage. Expand
Parental consanguinity increases congenital heart diseases in South India
TLDR
For every incidence of parental consanguinity, the risk of birth of a child with CHD increases, and the important role played by segregation of recessive genes in the offspring resulting in the causation of CHDs is emphasized. Expand
An understanding the genetic basis of congenital heart disease
TLDR
This review provides updated information on the genetic basis for cardiac defects which helps to understand, identify, prevent and treat individuals who might be at risk at an early stage. Expand
Missense mutation G296S in GATA4 is not responsible for cardiac septal defects
TLDR
Analysis of this particular mutation in 21 septal defect patients revealed that none of the patients had the mutation, indicating that this mutation is population specific or septAL defect in Mysore population is caused due to mutations in other regions of the GATA4 gene. Expand
Association Between Pericentric Inversion in Chromosome 9 and Congenital Heart Defects
TLDR
It is predicted that the genes responsible for the normal heart development could be present on chromosome 9 around p11-q13 region, which might have been defective during the process of inversion and thereby resulted in CHD. Expand
Evolution of phenylthiocarbamide taster trait in Mysore, South India
TLDR
Investigation in Mysore found that tasters are more frequent than nontasters in all the four categories andVariation in the frequency of nontaster allele in the religious groups could be due to inbreeding. Expand