No | Karyotype results | Known syndromes | Inheritance |
---|---|---|---|
1–31 | 47,--,+ 21 | Down syndrome | de novo/NA |
32 | 46,--,rob(14;21)(q10q10),+ 21 | Down syndrome | NA |
33 | mos 47,--,+ 21[39]/46,--[48] | Down syndrome(mosaic) | de novo |
34–36 | 47,--,+ 18 | Edwards syndrome | de novo |
37–40 | 47,XXX | 47,XXX syndrome | de novo |
41 | 47,XXY | Klinefelter syndrome | NA |
42 | 45,X | Turner syndrome | de novo |
43 | mos 45,X[61]/47,XXX[15] | Turner syndrome(mosaic) | de novo |
44 | mos 45,X [7]/46,XX[127] | Turner syndrome(mosaic) | de novo |
45 | mos 45,X [15]/46,XY[135] | Turner syndrome/Hermaphroditism | de novo |
46 | mos 47,XXX [13]/46,XX[140] | 47,XXX syndrome(mosaic) | NA |
47 | 46,--,dup(11)(q22.2q23.1) | / | de novo |
48 | 46,--,der(4)t(4;17)(p16;p11.2) | / | father |
49 | 46,--,del(17)(p11.2p11.2) | Smith-Magenis Syndrome | NA |
50 | mos 47,--,+psu idic(9)(q21.11) [13]/46,--[54] | / | NA |
51 | 46,--,der(5)t(5;9)(p15.1;p22) | Cri-Du-Chat syndrome | father |
52 | 47,--,t(7;18)(p21;q11.2),+mar | / | mother |
53 | 45,--,rob(14;22)(q10;q10) | / | father |
54 | 46,--,t(2;20)(p23;q13.1) | / | father |
54 | 46,--,t(7;12)(q21.2;p13.1) | / | mother |
56 | 46,--,t(17;20)(q21;q11.2) | / | mother |
57 | mos 46,--t(3;6)(q11.2;q25) [9]/46,--[43] | / | de novo |