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CTMD > Cytogenetic Disorders > Flashcards

Cytogenetic Disorders Flashcards

1
Q

Triploidy

A

Microsomia, 3-4 syndactyly, large cystic placenta

Dispermy, polar body retention, meiotic nondisjunction could have occurred. Die early in newborn period.

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2
Q

Down’s syndrome etiology and risk

A

Mostly maternal non-disjunction leading to trisomy 21. Also could be mosaic or unbalanced translocation (3% each).

risk at 35 yo: 1/370 (4x at 20 yo, 1/2-2/3 of total risk)
risk at 20 yo: 1/1660

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3
Q

Most common Down signs

A

Short, mental retardation, upslanting palpebral fissures, increased skin on back of neck, hearing loss (all 80% or more)

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4
Q

How is Down typically fatal?

A

(infant) Heart, leukemia, respiratory

(adult) immune, aging, dementia

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5
Q

What evaluations are typical in Down?

A

EKG, Thyroid screen, Hearing/vision screen, C-spine radiograph

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6
Q

What are findings of both trisomy 13 and trisomy 18?

A

Rocker bottom feet, heart issue, mental retardation, poor survival

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7
Q

What are findings of trisomy 18?

A

Small, postmature, micrognathia, weird occiput/forehead/ears, digit overlap, omphacele

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8
Q

What are findings of trisomy 13?

A

cleft lip, polydactyly, scalp, holoprosencephaly

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9
Q

Turner syndrome…why are they abnormal?

A

short, delayed puberty, ovary problems, webbed neck, big ears, downslanting palpebral fissures, kidney and heart problems

Abnormal because some genes on silenced X escape inactivation and are necessary for normal development. Both X’s active in oogenesis, embryogenesis.

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10
Q

Klinefelter

A

normal till puberty. hypogonadism, infertility due to azospermia. tall, gynecomastia

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11
Q

Cri du Chat

A

shrill cry, 5p deletion, microcephaly, round face, hypotonia

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12
Q

Wolf Hirschhorn

A

4p deletion, small, microcephaly, frontal bossing, cleft lip, heart defect, hypospadia (urethral issue), IQ less than 20, seizures, greek warrior helmet

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13
Q

Prader Willi

A

mostly small 15q deletion, but also a uniparental disomy (no paternal 15). obese

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14
Q

Angelman

A

mental retardation, microcephaly, jerky ataxic gait, maternal 15q deletion or UPD

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15
Q

Williams

A

elfin, music, cocktail party, supravalvular aortic stenosis, 7q11.12 elastin gene

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16
Q

22q11.2

A

DiGeorge/Velocardiofacial. CATCH22: Cardiac, Abnormal facies, Thymic aplasia, Cleft palate, Hypocalcemia/hypoparathyroidism.

Velocardiofacial has inadequate velopharyngeal closure, so difficulty speaking (hypernasal)

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17
Q

Miller-Dieker

A

Lissencephaly = smooth brain…defective neuronal migration. 17p13.3.

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18
Q

3 most common chromosomal abnormalities in spontaneous abortion

A

trisomies (esp 16), mono x, triploidy

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19
Q

Neuroblastoma

A

MycN

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20
Q

APL

A

15-17 translocation, take drug atra vit A thingy

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21
Q

AMmL

A

16inv

22
Q

AMbL

A

8:21

23
Q

Ewing

A

11:21 Ewing FLI1

24
Q

Burkitt

A

Cmyc, 8:14 iG promoter

25
Q

CML

A

Bcr Abl 9:22 imatinib gleevac Philly

26
Q

Gastric

A

H Pylori

27
Q

ALL

A

T/C cell 2nd most common

28
Q

FAP

A

APC cin

29
Q

HNPCC

A

MMR min….women more likely to have gyn malignancy not colon cancer

30
Q

HPV

A

Cancer anywhere a penis could go. urogenital, oropharyngeal, ovarian, cervical…affects p53, rb

31
Q

HBV/HCV

A

Hepatocarcinoma nFkb

32
Q

EBV

A

lymphoma in immunosuppressed, also causes mono

33
Q

hTLV1

A

nFkb/p53 T cell leukemia/lymphoma RNA virus

34
Q

Asbestos

A

Mesothelioma ROS

35
Q

Menangioma

A

mono 22

36
Q

Alveolar rhabdo

A

2:13

37
Q

Synovial sarcoma

A

X:18

38
Q

retinal blastoma

A

del 13q14

39
Q

Li Fraumeni

A

mutation p53

40
Q

Atacia Telenglacia

A

DSB repair Ser/Thr kinase

41
Q

BRCA1/2

A

DSB repair scaffold

42
Q

Fanconi Anemia

A

x-link repair

43
Q

Werner

A

wrn helicase cin

44
Q

Bloom

A

blm butterfly malar rash helicase cin

45
Q

Nij-Megan BS

A

DSB

46
Q

Xeroderma Pigmentosum

A

NER

47
Q

total risk congenital abnormality

A

2-3%

48
Q

4 common congenital anomalies that increase likelihood of diagnosing a chromosome abnormality

A

Congenital heart defect, diaphragmatic hernia, omphalocele, cystic hygroma (turner)

49
Q

3 maternal conditions that can cause fetal abnormalities

A

DM, epilepsy, congenital adrenal hyperplasia

50
Q

First trimester/Second trimester screening

A
  1. pappA, nuchal translucency, hcg

2. AFP, hcg, estriol, inhibin

CTMD (6 decks)

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