title: Familial inv(2) (p2300q11.2).
abstract: A hitherto undescribed inv(2) (p2300q11.2) was found in 2 generations of a family ascertained through a holoprosencephalic liveborn boy with normal karyotype. This inversion, quite probably not related to the child malformations, does not seem neither impair reproductive fitness nor to yield viable recombination aneusomies.
mesh_terms: D002871:Chromosome Banding; D007446:Chromosome Inversion; D002900:Chromosomes, Human, 1-3; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree