Quick Fire Facts - Assorted Flashcards
(144 cards)
1
Q
What is the location of KMT2A?
A
11q23
2
Q
What is the location of TCF3?
A
19p13
3
Q
Karotype of BCR-ABL1?
A
t(9;22)(q34;q11)
4
Q
Karyotype of ETV6-RUNX1?
A
t(12;21)(p13;q22)
5
Q
Karyotype of RUN1T1-RUNX1?
A
t(8;21)(q21;q22)
6
Q
Karyotype of AFF1-KMT2A
A
t(4;11)(q21;q23)
7
Q
Karyotype of TCF3-HLF?
A
t(17;19)(q22;p13)
8
Q
Karyotype of PBX1-TCF3?
A
t(1;19)(q23;p13)
9
Q
What is the location of IGH?
A
14q32
10
Q
What is the location of TP53?
A
17p13
11
Q
What is the location of RB1?
A
13q14
12
Q
Karyotype of CBFB-MYH11?
A
inv(16)(p13q22) (or t(16;16))
13
Q
Karyotype of PML-RARA?
A
t(15;17)(q24;q21)
14
Q
Karyotype of MLLT3-KMT2A?
A
t(9;11)(p22;q23)
15
Q
Karyotype of DEK-NUP214?
A
t(6;9)(p23;q34)
16
Q
Karyotype of RPN1-EVI1?
A
inv(3)(q21q26.2) (or t(3;3))
17
Q
Karyotype of RBM15-MKL1?
A
t(1;22)(p13;q13)
18
Q
What is the location of FLT3?
A
13q12
19
Q
What is the location of ATM?
A
11q23
20
Q
Karyotype of IGH-CCND1?
A
t(11;14)(q13;q32)
21
Q
Karyotype of IGH-BCL2?
A
t(14;18)(q32;q21)
22
Q
Karyotype of MYC-IGH?
A
t(8;14)(q24;q32)
23
Q
What is the location of CCND3?
A
6p21
24
Q
What is the location of MAFB?
A
20q11
25
What is the location of IGL?
22q11
26
What is the location of IGK?
2p12
27
Karyotype of MYC-IGL?
t(8;22)(q24;q11)
28
Karyotype of MYC-IGK?
t(2;8)(p12;q24)
29
Karyotype of IGH-BCL6?
t(3;14)(q27;q32)
30
Karyotype of MALT1-BIRC3?
t(11;18)(q21;q21)
31
Karyotype of IGH-MALT1?
t(14;18)(q32;q21)
32
Karyotype of IGH-BCL10?
t(1;14)(p22;q32)
33
What is the TAR location?
1q21
34
What is RBM8A associated with?
TAR
35
What is the location of NRXN1?
2p16.3
36
What is the locus for Mowat-Wilson?
2q22
37
What is ZEB2 associated with?
Mowat-Wilson
38
What is the location of VHL?
3p25.3
39
What is the locus of Wolf-Hirschhorn?
4p16.3
40
What is the locus of Cri-du-chat?
5p15.3-p15.2
41
What is the locus of Sotos?
5q35
42
What is NSD1 associated with?
Sotos
43
What is the locus of Cornelia de Lange?
5p13.2
44
What is NIPBL associated with?
Cornelia de Lange
45
What is the locus of Williams?
7q11.23
46
What is ELN associated with?
Williams
47
What is the location of GATA4?
8p23.1
48
What is the locus of Roberts?
8p21.1
49
What is ESCO2 associated with?
Roberts
50
What is the location of FGFR1?
8p12
51
What is the locus of CHARGE?
8q21
52
What is CHD7 associated with?
CHARGE
53
What is the locus of WAGR?
11p13
54
What is the PWS/AS locus?
15q11-q13
55
What is the location of NIPA1,NIPA2,TUBGCP5?
15q11.2
56
What is the location of CHRNA7?
15q13.3
57
What is the locus of Rubinstein-Taybi?
16p13.3
58
What is CREBBP associated with?
Rubinstein Taybi
59
What is the locus of Miller Dieker?
17p13.3
60
What is PAFAH1B1 associated with?
Miller Dieker
61
What is the locus of Smith Magenis?
17p11.2
62
What is RAI1 associated with?
Smith Magenis/Potocki Lupski
63
What is the locus of Potocki-Lupski?
17p11.2
64
What is the locus of HNPP?
17p12
65
What is the locus of CMT1A?
17p12
66
What is PMP22 associated with?
HNPP/CMT1A
67
What is the location of NF1?
17q11.2
68
What is the locus of RCAD/MODY?
17q12
69
What is the location of TBX1?
22q11.21
70
What is the location of CRKL?
22q11.21
71
What is the location of MAPK1?
22q11.21-q11.22
72
What is the location of SMARCB1?
22q11.23
73
What is the locus of Phelan-McDermid?
22q13
74
What are ARSA and SHANK3 associated with?
Phelan-McDermid
75
What is the location of SRY?
Yp11.31
76
What is the location of SHOX?
Xp22.33
77
What is the locus of Bloom Syndrome?
15q26.1
78
What is the locus of Ataxia Telangietasia?
11q22.3
79
What is BLM associated with?
Bloom Syndrome
80
What is ATM associated with?
Ataxia Telangiectasia
81
What is the locus of Nijmegan BS?
8q21.3
82
What is the location of FMR1?
Xq27.3
83
What is the location of FMR2?
Xq28
84
What is the location of XIST?
Xq13
85
Name 2 variant RARA translocations
t(11;17)(q13;q21),
t(11;17)(q23;q21),
t(5;17)(q35;q21)
86
Name a FAB class M4 AML
inv(16)(p13.1q22) CBFB-MYH11
87
Name a FAB Class M2 AML
t(8;21)(q22;q22) RUNX1T1-RUNX1
88
Name a FAB Class M3 AML
t(15;17)(q24;q21) PML-RARA
89
Name a FAB Class M5 AML
t(9;11)(p22;q34) MLLT3-KMT2A
90
Prognosis of t(12;21)(p13;q22) in ALL
Favourable
91
Prognosis of Hyperdiploidy in ALL
Favourable
92
Prognosis of t(9;22)(q34;q11) in ALL
Poor
93
Prognosis of t(4;11)(q21;q23) in ALL
Poor
94
Prognosis of hypodiploidy in ALL
Poor
95
Prognosis of t(1;19)(q23;p13) in ALL
Intermediate
96
Prognosis of t(17;19)(q22;p13) in ALL
Poor
97
Prognosis of iAMP21 in ALL
Poor
98
Prognosis of complex karyotype in adult ALL
Poor
99
Prognosis of near triploidy in adult ALL
Poor
100
Prognosis of t(8;21)(q22;q22) in AML
Good with high dose cytarabine in the consolidation phase
101
Prognosis of inv(16)(p13.1q22) in AML
Good with high dose cytarabine in the consolidation phase
102
Prognosis of t(15;17)(q24;q21) in AML
Good
103
Prognosis of t(6;9)(p23;q34) in childhood AML
Poor (intermediate in adults)
104
Prognosis of t(9;11)(p22;q23) in AML
Intermediate - better than AML with other 11q23 translocations
105
Prognosis of t(4;14)(p16.3;q32) IGH-FGFR3 in MM
Poor
106
Prognosis of t(11;14)(q13;q32) IGH-CCND1 in MM
Good
107
Prognosis of t(14;16)(q32;q23) IGH-MAF in MM
Poor
108
Prognosis of t(6;14)(p21;q32) IGH-CCND3 in MM
Good
109
Prognosis of t(14;20)(q32;q11) IGH-MAFB in MM
Poor - may be very poor
110
Prognosis of isolated 13q14.3 mono/biallelic deletion in CLL
Favourable
111
Prognosis of trisomy 12 in CLL
Intermediate
112
Prognosis of ATM deletion (11q23) in CLL
Poor
113
Prognosis of TP53 deletion (17p13.1) in CLL
Poor
114
Prognosis of CLL with IGH rearrangement?
Generally poor
115
What grade is Burkitt Lymphoma?
High grade lymphoma
116
What grade is Follicular lymphoma?
Low grade lymphoma
117
What grade is Mantle Cell Lymphoma?
Low/Intermediate grade lymphoma
118
What grade is DLBCL?
High grade lymphoma
119
Prognosis of -Y in MDS
Very good (consider age related Y chrm loss)
120
Prognosis of del(11q) in MDS
Very good
121
Prognosis of del(5q) in MDS
Good
122
Prognosis of del(12p) in MDS
Good
123
Prognosis of del(20q) in MDS
Good
124
Prognosis of del(7q) in MDS
Intermediate
125
Prognosis of +8 in MDS
Intermediate
126
Prognosis of +19 in MDS
Intermediate
127
Prognosis of i(17q) in MDS
Intermediate
128
Prognosis of -7 in MDS
Poor
129
Prognosis of inv(3)/t(3q)/del(3q) in MDS
Poor
130
Prognosis of complex kary of 3 abnormalities in MDS
Poor
131
Prognosis of complex karyo >3 abnormalities in MDS
Very poor
132
Prognosis of normal karytyope in MDS
Good
133
Prognosis of 2 abn's including del(5q) in MDS
Good
134
Prognosis of 2 abn's not including del(5q) or -7/del(7q) in MDS
Intermediate
135
Prognosis of 2 abn's including -7/del(7q) in MDS
Poor
136
3 X-linked recessive disorders
DMD, BMD, SBMA, Androgen Insensitivity Syndrome, Fabry Disease, Hunter Syndrome
137
3 X-linked dominant disorders
X-linked hypophosphatemia/Vit D resistant rickets, X-linked Alport Syndrome, Intercontinentia Pigmentia, Rett Syndrome, Oral-facial-digitial syndrome type 1
138
Expansion size for Fragile X - full
>200 rpts
139
Premutation expansion for Fragile X
55-200 rpts
140
Normal allele size for Huntingtons
Less than 27 rpts
141
Intermediate expansion size for Huntingtons
27-35 rpts
142
Incomplete penetrance expansion for Huntingtons
36-39 rpts
143
Fully penetrant expansion for Huntingtons
40+rpts
144
Expansions for juvenile onset Huntingtons
60+rpts
