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Cytogen FINALS > Chromosomal Abnormalities PT2 > Flashcards

Chromosomal Abnormalities PT2 Flashcards

1
Q

exchange of material between 2 diff chromosomes which invole NO LOSS/GAIN of chrom material

A

reciprocal translocatio

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2
Q

participating chrom (ACROcentric) break at their centromere; LONG ARMS FUSE = single large chromosome

A

ROBERTSONIAN TRANSLOCATION

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3
Q

Robertsonian Translocation: what “arms” are lost?

A

p arm

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4
Q

Loss of a portion of a chromosome

A

deletion

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5
Q

Extra piece of a chromosome

A

duplication

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6
Q

PORTION of 1 chromosome is DELETEDfrom
its normal place & INSERTED into a region of another chromosome

A

INSERTION

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7
Q

FRAGMENTATION of a chromosome followed by
RECONSTITUTION w/ a section inverted

A

INVERSION

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8
Q

Centromere is WITHIN the loop = included

A

PERIcentric inversion

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9
Q

Centromere OUTSIDE loop = not inc.

A

PARAcentric

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10
Q

Division of chromosome at centromere TRANSVERSELY

A

ISOCHROMOSOMES

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11
Q

Chromosome w/ identical parts; Upper arm is the same w/ the lower arm

A

ISOCHROMOSOMES

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12
Q

Aberrant chromosome whose STICKY ENDS have
fused together forming a ring = removed telomeres

A

RING CHROMOSOMES

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13
Q

Baby can’t recognize the mother
Delayed motor development = can’t support head

A

mental retardation

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14
Q

delayed puberty

A

klinefelter syndrome and turner syndrome

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15
Q

abnormal features

A

(CCLSM)

coarse facie
clinodactyly
low set ears
simian crease
mongoloid eyes

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16
Q

most common chromosomal aberration

A

down syndrome

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17
Q

down syndrome karyotype

A

47, XX/XY, +21

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18
Q

total num of chrom in non-disjuction

A

47

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19
Q

total num of chrom in translocation

A

46

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20
Q

robersonian translocation

A

14q21q

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21
Q

translocation carrier has how many chrom

A

45

22
Q

some cells are normal (46 chrom); some are trisomic (47 chrom)

A

mosaicism

23
Q

mental retardation and delayed motor movement is due to?

A

hypotonia

24
Q

inapprorpiate head proportion

A

brachycephaly

25
Q

20 times commoner in trisomy 21

A

leukemia

26
Q

Associated Congenital Anomalies

A

congenital heart disease
duodenal atresia
renal anomalies

27
Q

in cri du chat, – of the child is improperly developed

A

larynx

28
Q

cause of cri du chat

A

DELETION of about HAF of the short/P ARM of CHROMOSOME 5

29
Q

prader willi deletion in –

A

15q1.11-1.13

30
Q

Establish diagnosis; Determine genetic type for genetic counselling & prognosis

A

karyotyping

31
Q

For suspected congenital heart disease

A

Chest x-ray and Echocardiography

32
Q

An agent/factor that causes malformation of embryo

A

teratogen

33
Q

common teratogens: TORCH

A

toxoplasmosis
others
rubella
cytomegalovirus
herpes

34
Q

common teratogens: drug and toxins

A

thalidomide
anticoagulants
antoconvulsants
psychiatric drugs

35
Q

Refers to the ASSESSMENT of birth defects and unusual physical features that have their
ORIGIN during EMBRYOGENESIS

A

dysmorphology

36
Q

Primary structural defect occurring during the DEVELOPMENT of a tissueor organ

A

malformation

37
Q

ex of malformation

A

spina bifida & cleft lip palate

38
Q

Implies an abnormal intrauterine mechanical force; DISTORTS a NORMALLY FORMED structure

A

deformation

39
Q

Involves DESTRUCTION of a FETAL part w/c initially formed normally

A

disruption

40
Q

Refers to abnormal cellular organization or function of specific tissue types

A

dysplasia

41
Q

disruption may cause

A

limb reduction defetcs

42
Q

ex of deformation

A

club foot, congenital hip dislocation

43
Q

ex of dysplasia

A

skeletal dysplasias and dysplastic kidney disease

44
Q

PATTERN of multiple abnormalities occurring after 1 initiating defect

A

sequence

45
Q

Fetal compression & pulmonary hypoplasia

A

potter’s syndrome

46
Q

potter’s syndrome is a sequence w/c all abnormalities may be traced to what 1 original malformation

A

renal agenesis

47
Q

GROUP of malformations that OCCUR TOGETHER together more often than expected by chance, but in different combinations from case to case

A

association

48
Q

Particular set of multiple anomalies occurs REPEATEDLY in a CONSISTENT pattern

A

SYNDROME

49
Q

Artificial introduction of genes into disease tissue in to cure the diseases

A

GENE THERAPY

50
Q

VACTERL Association

A

vertebral anomalies
anal atresia
cardiac defects
tracheo-esophageal fistula
renal anomalies
limb defects

Cytogen FINALS (2 decks)

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