Table 1 Overview of KSM cases
Chromosome complements | *Cell proportions (%) | Brief phenotypical overview |
|---|---|---|
47,XXY/46,XY | 9/91 | Mild intellectual disability, disorder of sex development |
47,XXY/46,XY | 95/5 | Severe intellectual disability, autism, congenital malformations, Klinefelter syndrome features |
47,XXY/46,XY | 12/88 | Rett-syndrome-like phenotype |
47,XXY/46,XY | 7/93 | Fragile X syndrome, autism |
48,XXXY/50,XXXXXY/ 49,XXXXY/47,XXY | 50/20/18/12 | Severe intellectual disability, disorder of sex development, multiple congenital malformations |
47,XXY/46,XY | 4/96 | Mild intellectual disability, Klinefelter syndrome features |
49,XXXXY/46,XXY | 91/9 | Fragile X syndrome, severe intellectual disability, disorder of sex development, multiple congenital malformations |
47,XXY/46XY | 7/93 | Rett-syndrome-like phenotype |
49,XXXXY/48,XXXY/ 47,XXY | 74//19/7 | Severe intellectual disability, multiple congenital malformations, skeletal dysplasia |
47,XXY/46,XY | 91/9 | Mild intellectual disability, Klinefelter syndrome features |
47,XXY/46,XY | 9/91 | Rett-syndrome-like phenotype |
47,XXY/46,XY | 7/93 | Rett-syndrome-like phenotype |
47,XXY/46,XY | 7/93 | Intellectual disability, congenital malformations |
47,XXY/45,X/47,XYY/46,XY | 8/5/4/83 | Intellectual disability, microcephaly, multiple congenital malformations |
47,XXY/45,X/46,XY | 13/8/79 | Intellectual disability, autism, multiple congenital malformations |
47,XXY/45,X/46XY | 8/7/85 | Intellectual disability, epilepsy, congenital heart defect (Williams-Beuren syndrome) |
47,XXY/48,XXXY/46,XY | 50/37/13 | Intellectual disability, Klinefelter syndrome features, myopia |
48,XXYY/47,XXY/46,XY | 62/15/23 | Intellectual disability, disorder of sex development |
47,XXY/45,X/46,XY | 21/18/61 | Mild intellectual disability, disorder of sex development |
47,XY,r(X)/46,XY | 16/84 | Mild intellectual disability, disorder of sex development |
47,XXY/46,XY | 99/1 | Mild intellectual disability, Klinefelter syndrome features |
49,XXXXY/47,XXY/48,XXXY | 87/7/6 | Severe intellectual disability, multiple congenital malformations, disorder of sex development |
49,XXXXY/50,XXXXXУ/ 47,XXY | 91/6/3 | Intellectual disability, muscular hypotonia, obesity, disorder of sex development |
48,XXYY/47,XXУ/47,XYY | 95/3/2 | Intellectual disability, autism, aggressive behavior, multiple congenital malformations |
47,XXY/47,XYY/46XY | 5/1/94 | Gilbert syndrome, Mild intellectual disability, congenital malformations |
47,XXY/46,XY | 8/92 | CDKL5-deficiency (severe intellectual disability, epilepsy) |
49,XXXXY/47,XXY | 91/9 | Severe intellectual disability, multiple congenital malformations, congenital heart defect, disorder of sex development |
47,XXY/46,XY | 30/70 | Rett-syndrome-like phenotype |