Journal of Medical Genetics · 1982 · 27 citations · 19 references
Life SciencesGeneticsMolecular GeneticsCytogeneticsHuman GeneticsMedical GeneticsChromosomal AberrationsChromosomal AbnormalitiesChromosomal DisordersGenetic DisordersMolecular CytogeneticsStructural Chromosome AbnormalitiesChromosomal InversionsChromosomal RearrangementsChromosome InversionsExpressive Language DelayParental Chromosomal AbnormalitiesPericentric InversionsPosition-effect VariegationStructural Chromosome Rearrangements
A child with developmental and language delay was found to be homozygous for a pericentric inversion of chromosome 4 (inv(4) (p15 X 2q12)). Her normal mother and aunt are inversion heterozygotes. It is suggested that the phenotypic abnormalities may have resulted from damage at chromosomal breakpoints or from a position effect which is expressed only in homozygous form.
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Pericentric inversions of human chromosomes 9 and 10.
de la Chapelle A, Jim Schröder, K Stenstrand et al. · PubMed · 1974 · 125 citations