title: Tetrasomy 18p: a distinctive syndrome.
abstract: A 10-month-old girl with growth and psychomotor retardation and pyramidal signs, was found to have a 47,XX,inv(9)(p11q13),+i(18p) karyotype. Whereas the inverted chromosome was inherited from the father, the isochromosome was of unknown origin. A comparative analysis with 17 similar cases from the literature lead to the conclusion that the tetrasomy 18p actually constitutes a distinctive syndrome.
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002901:Chromosomes, Human, 13-15; D002902:Chromosomes, Human, 16-18; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree