Syndromes And Conditions Flashcards
Fragile X Syndrome
Xq27.3
FMR-1 gene
-mental retardation
-high arched palate
-prominent jaw;
prominent and elongated ears
-macroorchidism( large testicles)
-connective tissue alterations
-hyperactive behaviorTurners Syndrome
45,X
Webbing of the neck, short stature, amenorrhea
Klinefelter
47,XXY
Tall stature, sterility, gynecomastia
Patau syndrome
47,XX,+13
Severe mental retardation and physical deformities
(Trisomy 13)
Edwards Syndrome
47,XX,+18
Severe mental retardation and physical deformities
(Trisomy 18)
Down Syndrome
47,XX,+21
Mental retardation, flat face, simian crease
Trisomy 21
Syndromes associated with autosomal deletions and duplications
Del(4)(p16)
wolf hirschhorn:
craniofacial defects, “Greek warrior helmet” syndrome.
Pronounced growth and mental retardation
Del(5)(p15)
Cri-du-chat.
Distinctive cry that sounds like a cat,mental retardation, microencephaly
Del(13)(q14)
Retinoblastoma.
Tumors of the retina
Dup(22)(Pter-q11)tetrasomy of 22p.
Cat’s eye.
Coloboma of iris( not round but fissure-like.
Syndromes associated with microdeletions
Prader-Willi.
Del(15)(q11-2)70%cases due to paternal deficiency.
Mental retardation, obesity
Angelman Del(15)(q11-12)70%cases due to maternal deficiency.
Langer-Giedion.
Del(8)(q24) Facial and limb defects.
“Puppet-like”gait, severe mental retardation, paroxysms of laughter, characteristic facies.
Miller-Dieker
Del(17)(p13.3).
Lissencephaly(smooth brain with incomplete development), severe mental retardation.
DiGeorge
Del(22)(pter-q11).
Abnormal defects of the thymus and parathyroids, cardiovascular anomalies.
Aniridia-Wilma tumor.
Del(11)(p13)
Absence of the iris of the eye, mental and growth retardation, tumors of the kidney
What effect does sodium heparin have on cells
Prevents clotting
To ensure the maximum spreading of chromosomes during harvest
Use warm hypotonic 37C
Clastogens cause chromosome breaks
Viruses
Radiation
Chemotherapeutic agents
Toxins
MDS
Myelodysplastic syndromes
-5,
del(5q)
critical deleted region: 5q31-32
-7,
del(7q),
+8,
inv(3)(q21q26) Gene: RPN1/MECOM(EV11)
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Refractory anemia
Refractory anemia’s with ringed sideroblasts
Refractory anemia with excess of blasts
Refractory anemia with excess of blasts in transformation
Miller-Dieker syndrome
del(17)(p13.3)
LIS1
DiGeorge Syndrome
del(22)(q11.2)
Velocardiofacial syndrome
VCFs
Prader Willi syndrome
del 15 q11-q13
SNRPN
Aniridia-Wilms Tumor
del11(p13)
Cats Eye syndrome
Extra i(22) (pter-q11)
Has Coloboma of iris
Fetus with increased risk for trisomy 18 pattern of serum and analytes
Low AFP
Low hCG
Low uE3
AML - M2
Acute myeloid leukemia with differentiation
t(8;21)(q22;q22)
RUNX1/RUNX1T1
APL - M3
Acute promyelocytic leukemia
t(15;17)(q22;q11-12)
Good prognosis
AML - M4 EO
Acute myelomonocytic leukemia
inv(16)(p13q23)
Numerical abnormality that gives us a clue we might have an inverted 16 is additional chromosome 22
Acute monocytic leukemia
M5
t(9;11)(p22;q23)
And other 11q23 rearrangements
Gene associated:
MLL
Also known as KMT2A
Acute erythroleukemia
M6
del(5q)
del(7q)
+8
Acute Megakaryocytic Leukemia
t(1;22)(p13;q13)
MPNs
myeloproliferative neoplasms
+8
+9
del(13q)
del(17p)
del(20q)
+1q
CML
Chronic myelogenous leukemia
t(9;22)
BCR 22
Abl 19
Secondary abnormality to show accelerated phase of CML
+8
iso17
+19
der22
Treated with tyrosine kinase inhibitor -Glibic
B cell Lymphoma
ALL
2p12
t(4;11) common in kids
t(9;22)
t(12;21) common adult.
Require FISH
14q32
22q11
T cell Lymphoma
ALL
Translocations involving
7p15
7q34
14q11
Mantle Cell Lymphoma
t(11;14)(q13;q32)
Maybe easy way to remember:
mantle, like mantle on fireplace. Kids would be old enough to reach when they are teenagers, so 11;14.
CLL
Chronic lymphocytic leukemia
B cell
Mature cell neoplasm
11q22-23 gene ATM
+12 most common
13q14 good prognosis
14q32 gene IGH
17p13 gene P53
Multiple myeloma
MM
1q rearrangement
t(4;14)
t(6;14)
t(11;14) gene IGH
del(13q) poor indicator
Hyperdiploidy
odd number chromosomes
Burkitt’s lymphoma
t(8;14)(q24;q23)
t(2;8)(p12;q24)
t(8;22)(q24;q11)
Follicular Lymphoma
t(14;18)(q32;q21)
Maybe easy way to remember:
f-in Follicular, f-in fourteen
Gene.
14q32 IGH
18q21 BCL2
Marginal Zone Lymphoma
t(11;18)(q21;q21)
Maybe easy way to remember is it’s opposites, so 11 from Mantle combine with 18 from Follicular so on the periphery of margins.
Anaplastic large cell lymphoma
t(2;5)(p23;q35)
Retinoblastoma
del(13)(q14)
Rb1
Ewing sarcoma
t(11;22)(q24;q12)
Williams Syndrome
del(7)(q11)
ELN deletion
Smith Magenis Syndrome
del(17)(q11.2)
SMS
Wolf-Hirschorn syndrome
del(4)(p16)
WHS
Cir-du-chat syndrome
del(5)(p15.2)
CSF1R
Beckwith-Wiedemann syndrome (BWS)/overgrowth syndrome
is often associated with changes in regions of DNA on chromosome 11 called imprinting centers (ICs). ICs control the methylation of several genes that are involved in normal growth
The most common features of BWS include macrosomia (large body size), macroglossia (large tongue), abdominal wall defects, an increased risk for childhood tumors, kidney abnormalities, hypoglycemia (low blood sugar) in the newborn period, and unusual ear creases or pits.
