Syndromes And Conditions Flashcards by Yana K

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 behavior

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Turners Syndrome

45,X

Webbing of the neck, short stature, amenorrhea

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Klinefelter

47,XXY

Tall stature, sterility, gynecomastia

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Patau syndrome

47,XX,+13

Severe mental retardation and physical deformities

(Trisomy 13)

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Edwards Syndrome

47,XX,+18

Severe mental retardation and physical deformities

(Trisomy 18)

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Down Syndrome

47,XX,+21

Mental retardation, flat face, simian crease

Trisomy 21

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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.

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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

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What effect does sodium heparin have on cells

Prevents clotting

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To ensure the maximum spreading of chromosomes during harvest

Use warm hypotonic 37C

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Clastogens cause chromosome breaks

Viruses
Radiation
Chemotherapeutic agents
Toxins

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MDS

Myelodysplastic syndromes

-5,
del(5q)
critical deleted region: 5q31-32

-7,
del(7q),

+8,

inv(3)(q21q26) Gene: RPN1/MECOM(EV11)
—————————————-
Refractory anemia

Refractory anemia’s with ringed sideroblasts

Refractory anemia with excess of blasts

Refractory anemia with excess of blasts in transformation

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Miller-Dieker syndrome

del(17)(p13.3)

LIS1

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DiGeorge Syndrome

del(22)(q11.2)

Velocardiofacial syndrome
VCFs

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Prader Willi syndrome

del 15 q11-q13

SNRPN

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Aniridia-Wilms Tumor

del11(p13)

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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

t(9;11)(p22;q23)

And other 11q23 rearrangements

Gene associated:

MLL

Also known as KMT2A

Acute erythroleukemia

del(5q)

del(7q)

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.