An isochromosome of the short arms of the no. 18 chromosome in a mentally retarded girl.
A 2.5-year-old girl with several congenital anomalies is described. Chromosomal analysis suggests the presence of a small extra metacentric chromosome which was identified as isochromosome 18p by means of R-banding and C-banding.
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002903:Chromosomes, Human, 19-20; D003878:Dermatoglyphics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping