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Dandy-Walker malformation with postaxial polydactly: a new case of Pierquin syndrome

Cristóbal A Passalacqua1, Victor P Villegas, Mariana I Aracena

  • 1Department of Pediatrics, Hospital Carlos Van Buren, Valparaíso Division of Pediatrics, Pontificia Universidad Católica de Chile Genetics Unit, Hospital Luis Calvo Mackenna Genetics Unit, Hospital Sótero del Río, Santiago, Chile.

Clinical Dysmorphology
|January 18, 2013
PubMed

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...