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For example, a human cell has 46 chromosomes. In the karyotype, 23 pairs of chromosomes will be shown (23 x 2 = 46). A karyotype can show different types of mutations, depending on which chromosome it affects.For example, Down Syndrome is a trisomy in chromosome 21, so there will be THREE instead of two chromosome 21s. You can research more mutations shown by chromosomes in a karyotype.or example, a human cell has 46 chromosomes. In the karyotype, 23 pairs of chromosomes will be shown (23 x 2 = 46). A karyotype can show different types of mutations, depending on which chromosome it affects.
No clear genotype-phenotype correlation have been established, but some studies suggested that frameshift, nonsense and splice site mutations in COL1A1 and COL1A2 are seen more in patients affected with mild OI type I that lead to haploinsufficiency, while glycine substitutions in the conserved triple helix domain of the Type I collagen protein are common pathogenic variants in patients affected with OI types II and III (Ben Amor et al. 2011; van Dijk et al. 2013).