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Speci@l PageS
Template
:
Chromosomal abnormalities
From WikiMD's Wellness Encyclopedia
Chromosome abnormalities
Autosomal
Trisomies
/Tetrasomies
*
Down syndrome
21
Edwards syndrome
18
Patau syndrome
13
Trisomy 9
Tetrasomy 9p
Warkany syndrome 2
8
Cat eye syndrome
/
Trisomy 22
22
Trisomy 16
Monosomies
/
deletions
* (
1q21.1 deletion syndrome
/
1q21.1 duplication syndrome
/
TAR syndrome
/
1p36 deletion syndrome
)
1
Wolf–Hirschhorn syndrome
4
Cri du chat syndrome
/
Chromosome 5q deletion syndrome
5
Williams syndrome
7
Jacobsen syndrome
11
Miller–Dieker syndrome
/
Smith–Magenis syndrome
17
DiGeorge syndrome
22
22q11.2 distal deletion syndrome
22
22q13 deletion syndrome
22
genomic imprinting
Angelman syndrome
/
Prader–Willi syndrome
(
15
)
Distal 18q-
/
Proximal 18q-
X
/
Y
linked
Monosomy
*
Turner syndrome (45,X)
Trisomy
/
tetrasomy
,
other karyotypes
/
mosaics
*
Klinefelter syndrome (47,XXY)
XXYY syndrome (48,XXYY)
XXXY syndrome (48,XXXY)
49,XXXYY
49,XXXXY
Triple X syndrome (47,XXX)
Tetrasomy X (48,XXXX)
49,XXXXX
Jacobs syndrome (47,XYY)
48,XYYY
49,XYYYY
45,X/46,XY
46,XX/46,XY
Translocations
Leukemia
/
lymphoma
Lymphoid
*
Burkitt's lymphoma
t(8
MYC
;14
IGH
)
Follicular lymphoma
t(14
IGH
;18
BCL2
)
Mantle cell lymphoma
/
Multiple myeloma
t(11
CCND1
:14
IGH
)
Anaplastic large-cell lymphoma
t(2
ALK
;5
NPM1
)
Acute lymphoblastic leukemia
Myeloid
*
Philadelphia chromosome
t(9
ABL
; 22
BCR
)
Acute myeloblastic leukemia with maturation
t(8
RUNX1T1
;21
RUNX1
)
Acute promyelocytic leukemia
t(15
PML
,17
RARA
)
Acute megakaryoblastic leukemia
t(1
RBM15
;22
MKL1
)
Other
*
Ewing's sarcoma
t(11
FLI1
; 22
EWS
)
Synovial sarcoma
t(x
SYT
;18
SSX
)
Dermatofibrosarcoma protuberans
t(17
COL1A1
;22
PDGFB
)
Myxoid liposarcoma
t(12
DDIT3
; 16
FUS
)
Desmoplastic small-round-cell tumor
t(11
WT1
; 22
EWS
)
Alveolar rhabdomyosarcoma
t(2
PAX3
; 13
FOXO1
) t (1
PAX7
; 13
FOXO1
)
Other
*
Fragile X syndrome
Uniparental disomy
XX male syndrome
/
46,XX testicular disorders of sex development
Marker chromosome
Ring chromosome
6
;
9
;
14
;
15
;
18
;
20
;
21
,
22
Category
:
Genetic disease and disorder templates by mechanism
