Table 2.
Name | Karyotypes | Aberrations in hCAP‐C and hCAP‐E expressions and mutations | Ref. |
---|---|---|---|
OPL‐1 | 47–48, X, add(1)(p11), der(2)add(2)(p23)add(2)(q35), add(4)(q21), der(4)(p16)add(4)(q35), + add(5)(p13), add(5)(q13), del(6)(q21), der(8)add(8)(p11)add(8)(q24), add(11)(q23), add12(q24), –13, add(13)(p11), add(14)(q24), add(15)(p11), der(15)t(10; 15)(q11;q22), –16, del(17)(q24), –18, add(20)(p11), del (20)(q11), der(21)t(13; 21)(q12;p11) | † | |
OPL‐2 | 46–207, del(1)(q21) × 1–2, add(2)(p11.1), add(7)(q32 × 2, der(11)t(11; I4)(p15; q11) × 2, add (15)(p13), der(l9)t(1; 19)(q21; p13.3) X 2. Band 14q32.33 | ( 15 ) | |
OPL‐3 | 43–49, XY, add (3)(q25), del (7)(q32), add (8)(p11), der (8), t(1;8)(q24;q24), del (12)(p11), add (13)(p11), add (17)(p11), add (18)(q21), –21, der (22), t (1; 22)(q12;p11), del(1)(q21q25), +0–3 mar | hCAP‐C; G2294A (Ala → Thr) | ( 14 ) |
OPL‐4 | 54–55, X, + add (1)(q11), der (1), add (1)(p36), add (1)(q21), + add (2)(p25), der (2), add (2)(p13), add (2)(q33), der (4), t (4; 9)(p16;q11), + add (5)(q11), der (5) del (5)(p15) add (5)(q31), i (5)(q10), –6, add (6)(p21), +7, –9, del (9)(p21), add (10)(p11), add (11)(q23), add (11)(q23), add (12)(q24) × 2, add (13)(q32), +14, –15, add (15)(p11), –16, add (16)(q22), –17, +20, mar1, mar2, mar3, mar4, mar5, +2–4mar | reduced hCAP‐C protein expression | ( 14) |
OPL‐5 | 40–42, XX, –8, add(9)(p23), –10, der(12)del(p?)add(12)q(24), add(13)(p11), –15, add(15)(q22), –18, add(18)(q21), + add(19)(p13), add(19)(p13), –21, + mar1, +0–1 mar | hCAP‐E; del exon 24 reduced hCAP‐C and hCAP‐E protein expression | ( 14 ) |
OPL‐7 | 47, X, add(X)(q11), t(1; 14)(q21;q22), t(2; 13)(p10;p10), inv(5)(p15q33),−6, −7,add(8)(p21), add(9)(q34), der(10)t(6; 10)(p11;p15), add(11)(p15), der(12)del(12)(p?)add(12)(q22), –13, add(19)(p11), add(19)(p13), der(19)t(7; 19)(q11;p13), +mar1, +mar2 × 2 | hCAP‐C; C1410T (Ala fi Val) reduced hCAP‐C protein expression | ( 14 ) |
Deglis | 46, XY, −2, + der(2)(?:: 2p23 +2q37::?), −4, + der(4)t(4;?)(q34;?), i(6p), del(6)(p22), + del(6)(p22), −8, + der(8)t(8;?) (q24;?), t(13; lS)(pll; pl l), t(21; 22)(pll; pl l), + mar | ( 12 ) | |
Pal‐1 | 48–49. X, t(1; 14)(p34;q32), der(3)t(3;7)(p24:q21)ins(3;?)8p24;?), der(8)t(8; 14)(p11;q11)del(8)(q24), –14, +20, –22, mar1, mar2, mar3 | (13) |
Takakuwa T et al., unpublished data, 2003.