Table II.
The sex chromosome aneuploidies identified
Individual | Sex chromosome aneuploidy | Disorder | Sex | Confirmed by karyotyping | Causative mechanism | Maternal age at birth | Paternal age at birth |
---|---|---|---|---|---|---|---|
LI_1 proband | XYY | SLI | Male | Yes | Paternal MII non-disjunction | 33 | 39 |
LI_2 proband | XYY | SLI | Male | Yes | Paternal MII non-disjunction | 32 | 32 |
LI_3 affected sib | XYY | SLI | Male | Yes | Paternal MII non-disjunction | 37 | 33 |
SLI_4 proband | XXY | SLI | Male | ND | Maternal MII non-disjunction | 34 | 35 |
SLI_5 proband | XXY | SLI | Male | ND | Maternal MII non-disjunction | NA | NA |
SLI_6 proband | XXY | SLI | Male | ND | Paternal MI non-disjunction | NA | NA |
DYS_7 proband | XXY | Dyslexia | Male | ND | NA | NA | NA |
SLI_8 proband | XXX | SLI | Female | ND | Maternal MII non-disjunction | 36 | 36 |
SLI_9 proband | XXX | SLI | Female | ND | Maternal MI non- disjunction | 34 | 39 |
LI_10 proband | XXX | SLI | Female | Yes | Paternal MII non-disjunction | 33 | 35 |
DYS_11 proband | XO | Dyslexia | Female | ND | NA | NA | NA |
SLI_12 proband | XXY or XO/XY mosaicism | SLI | Male | ND | NA | 26 | 26 |
LI, language impairment; SLI, specific language impairment; MII, meiosis II; ND, not done; NA, not available; MI, meiosis I.