Table 1 SCA phenotypes
Karyotype | MRI measure | Somatic phenotype | Cognitive phenotype |
|---|---|---|---|
47,XYY | Increased GM/WM volume [57] | Increased height | Decreased IQ [14] |
| Â | Decreased insular and frontotemporal volume [57] | Increased head circumference [1] | Antisocial traits [14] |
48,XXYY | Enlarged ventricles | Hypogonadism | Developmental delays |
| Â | Diffuse WM abnormalities [21] | Tall stature | Learning disability |
| Â | Â | Mild craniofacial dysmorphia [51] | Decreased IQ [21] |
47,XXY | Decreased TBV [14] | Hypogonadism | Decreased IQ |
| Â | Increased ventricular volume [13] | Tall stature | Higher incidence of schizoid personality traits [1] |
| Â | WM hyperintensities [14] | Testicular scarring | Â |
| Â | Decreased fractional anisotropy [15] | Low testosterone [1] | Â |
| Â | Decreased GM volume [52] | Â | Â |
48,XXXY | Decreased WM/GM [1] | Tall stature | Decreased IQ |
| Â | Â | Decreased testicular volume | Irritability |
| Â | Â | Facial dysmorphism [51] | Passivity [20] |
49,XXXXY | Decreased TBV | Decreased height [51] | Severe developmental delays [22] |
| Â | WM lesions [22] | Mild craniofacial abnormalities [22] | Â |
47,XXX | Decreased TBV [14] | Increased height [1] | Anxiety and impulsivity [22] |
| Â | Â | Radio-ulnar synostosis | Decreased IQ [14] |