Table 2

Copy number variation in eight proximal duplication cases and parent

1st chromosome 15†2nd chromosome 15
CaseAscertainment*NF1 (p1–4)IgH D (c13c6)NF1 (p1–4)IgH D (c13c6)
*Ascertainment of each subject: MR, mental retardation; DD, developmental delay.
†For each subject, the domain with the smaller number of signals is on the left; the mode of the number of signals is shown in bold and the range is in parentheses.
Class I
APregnancy loss with prox dup2 (1–3)2 (1–3)9/10 (6–12)5/6 (5–9)
BFetus with prox dup2 (1–3)2 (1–3)5 (4–6)4 (3–5)
    Mother of B2 (1–2)2 (1–2)5 (4–6)4 (2–6)
CMother of fetus with prox dup1 (1–2)2 (1–2)10 (6–11)6 (5–7)
    Father of C2 (2–3)2 (1–2)9 (7–11)7 (5–8)
    Mother of C1 (1–2)1 (1–2)2 (1–3)2 (1–3)
DFather of fetus with prox dup3 (2–5)2 (1–3)9 (8–13)7/8 (7–9)
EMother of fetus with prox dup2 (1–2)2 (1–3)6 (3–8)4 (3–5)
Class II
FAutism, prox dup1 (1–2)1 (1–2)5 (3–6)4 (2–6)
    Father of F2 (1–3)2 (1–3)4 (3–5)3 (2–3)
    Mother of F1 (1)1 (1–2)3 (2–5)2 (1–2)
GMR, DD, prox dup2 (1–3)2 (1–3)7 (5–10)2 (1–2)
    Mother of G2 (1–4)1 (1–2)7 (6–10)2 (2–3)
HAutism, prox dup2 (1–3)1 (1–2)6 (5–7)2 (1–3)
    Father of H2 (1–2)1 (1–2)2 (2–3)2 (2)
    Mother of H2 (1–3)2 (1–3)6 (4–6)2 (1–4)