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Table 1 Overview of KSM cases

From: Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis

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
  1. *According to FISH analysis