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CYTOLOGY > cytogenetic disorders > Flashcards

cytogenetic disorders Flashcards

1
Q

The standard for cytogenetic nomenclature is the__

A

International System of Cytogenetic
Nomenclature (ISCN)

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2
Q

The nomenclature describing a chromosome complement can be broken down into three
basic parts:

A

: the total number of chromosomes, the sex chromosome complement, and
any chromosome abnormalities

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3
Q

A normal female would be ___

A

46,XX

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4
Q

These units are listed in order, separated by commas.

A

yes

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5
Q

A normal male would be__

A

A normal male would be 46,XY

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6
Q
  • A trisomy 13 in female would be written as ___
A

47,XX,+13

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7
Q
  • A monosomy 8 in a male would be written as __
A

45,XY,-8

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8
Q

it is not necessary to use a + or – sign when sex chromosome variation is
known to be constitutional or inherent, because the change in the chromosome
complement can be noted directly

A

sige

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9
Q

Autosomal monosomies are observed only
rarely among ___ and ___

A

spontaneous abortions and
live births

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10
Q
  • ____ is found in 30% to 50% of all cases of
    chromosomal abnormalities in fetal death
A

Autosomal trisomy

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11
Q

Only few autosomal trisomies result in live births (__

A

trisomy 8, 13, and
18)

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12
Q

Trisomy ___ (Down syndrome) is the only autosomal trisomy that
allows survival into adulthood

A

21

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13
Q

Patau
Syndrome (47,+13)

A

Trisomy 13

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14
Q

47 chromosomes, and the extra chromosome was identified as
chromosome 13

A

Trisomy 13: Patau
Syndrome (47,+13)

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15
Q

Only ____ in 15,000 live births involves trisomy 13, and the condition is
lethal

A

1

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15
Q

Half of all affected individuals die in the first month, and the mean
survival time is __

A

6 months

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15
Q

Abnormalities of trisomy 13 include ___

A

facial malformations, eye defects, extra
fingers or toes, and feet with large protruding heels

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15
Q

Infants with this condition are small at birth, grow very slowly, and are
mentally retarded

A

Trisomy 18: Edwards Syndrome (47,+18)

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16
Q

Occurs in 1 in 11,000 live births, average survival time is 2 to 4 months

A

Trisomy 18: Edwards Syndrome (47,+18)

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16
Q

For unknown reasons, 80% of all trisomy 18 births are

A

female

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16
Q

in trisomy 13 There is usually severe malformations of the brain and nervous
system, as well as congenital heart defects

A

true

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16
Q

__ is the only factor known to be related to trisomy 13

A

Parental age

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17
Q

is predisposing factor or t18

A

Advanced maternal age

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17
Q
  • Heart malformations are almost always present, and heart failure or
    pneumonia usually causes death
A

Trisomy 18: Edwards Syndrome (47,+18)

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17
Q

Clenched fists, with the second and fifth fingers overlapping the third and
fourth fingers, and malformed feet are characteristic

A

Trisomy 18: Edwards Syndrome (47,+18)

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18
Q

Trisomy 21: Down
Syndrome (47,+21)

described by
__ in 1866

A

Described by John Langdon Down in 1866

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19
Q

The only human autosomal trisomy in which a significant
number of individuals survive longer than a year past birth

A

Trisomy 21: Down
Syndrome (47,+21)

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20
Q

Found in 1 in every 800 births

A

Trisomy 21: Down
Syndrome (47,+21)

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21
Q
  • Leading cause of childhood mental retardation and heart
    defects in the US
A

Trisomy 21: Down
Syndrome (47,+21)

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22
Q

Characterized by prominent epicanthic fold in each eye, and
individuals usually have a wide, flat skull, and spots on the
iris

A

Trisomy 21: Down
Syndrome (47,+21)

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23
Q

They may have furrowed, large tongues that cause the
mouth to remain partially open

A

Trisomy 21: Down
Syndrome (47,+21)

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24
Q

Physical growth, behavior, and mental
development are retarded, and
approximately 40% of all ___
children have congenital heart defects

A

Down syndrome

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25
Q

They are susceptible to respiratory
infections and contract leukemia at a rate
far above that of the normal population

A

Trisomy 21: Down
Syndrome (47,+21)

26
Q

It is observed that death in older adults
with Down syndrome is frequently due to

A

Alzheimer disease

27
Q

__ is a leading risk factor for trisomy

A

Maternal age

28
Q

Young mothers have a low probability of having trisomy 21 children, but the risk
increases rapidly after age 35 yea

A

omsim

29
Q

The relationship between maternal age and nondisjunction focuses
on the duration of __ in females

A

meiosis

30
Q

According to this idea, the embryo-uterine interaction normally
results in the spontaneous abortion of chromosomally abnormal
embryos, a process called

A

maternal selection

31
Q

As women age, maternal selection may become less effective,
allowing more chromosomally abnormal embryos to implant and
develop

A

oki

32
Q

Females with this condition are short and wide-chested with rudimentary ovaries

A

Turner
Syndrome
(45,X)

33
Q

At birth, puffiness of the hands and feet is prominent, but that disappears in infancy

A

Turner
Syndrome
(45,X)

34
Q

Many __ patients also have a narrow constriction of the aorta

A

turner

35
Q

turner

There is no mental retardation associated with this syndrome

A

opo

36
Q

Characterized by short stature (usually under 5 feet), skin flaps on the back of the neck,
and underdeveloped breasts

A

turner syndrome

37
Q

Occurs with a frequency of 1 in 10,000 female births

A

turner syndrome

38
Q

Two X chromosomes are needed for
normal development of the ovary,
normal growth patterns, and
development of the nervous system
in females

A

Turner Syndrome
(45,X)

39
Q

Complete absence of an X
chromosome in the absence or
presence of a Y chromosome is
always lethal

A

Turner Syndrome
(45,X)

40
Q

Occurs in approximately 1 in 1,000 male births

A

Klinefelter Syndrome
(47,XXY)

41
Q

The features of this syndrome do not develop until
puberty

A

Klinefelter Syndrome
(47,XXY)

42
Q

Affected individuals are male but have very low
fertility

A

Klinefelter Syndrome
(47,XXY)

43
Q
  • Individuals with this condition are generally tall and often
    have long arms and legs
A

Klinefelter Syndrome
(47,XXY)

44
Q
  • They have genitalia and internal ducts that are male, but
    their testes are reduced in size
A

Klinefelter Syndrome
(47,XXY)

45
Q

Although 50% of affected individuals do produce sperm, a
low sperm count renders most individuals sterile

A

Klinefelter Syndrome
(47,XXY)

46
Q

Gynecomastia is common, and hips are often rounded

A

Klinefelter Syndrome
(47,XXY)

47
Q

Presence of an additional Y chromosome in an otherwise male karyotype

A

XYY Syndrome (47,XYY)

48
Q

It results from the deletion of a small terminal portion of
chromosome 5

A

Cri du Chat Syndrome
(46,5p-)

49
Q

biirubin pathway

A

heme - (heme oxigenase )- biliverdin - (biliverdin reductase)

–> b1 + albumin

they will reach liver. While in the liver, the carrier will now become
- Ligandin

–> B1 + ligandin

– acted upon by UDPT

conjugated by the conjugating enzyme
uridyl diphosphate glucoronyl transferase

–> B2

  • gallblader – intestine (metabolized by the bacteria)

– ur0bilinogen

– either in intestine or in kidney

50
Q

which bilirubin is water polar

A

b2

51
Q

tighthly bounded b1 and albumin in liver is called

A

delta bilirubin

52
Q

Has longer half-life than other forms of bilirubin

A

DELTA BILIRUBIN

53
Q

Formed due to prolonged elevation of conjugated bilirubin

A

DELTA BILIRUBIN

54
Q

Helps in monitoring the decline of serum bilirubin following

A

gall stones

55
Q

A condition characterized by a
yellow discoloration or
pigmentation of the skin, sclera
and mucous membranes

A

jaundice

56
Q

Normal – bilirubin total

A

0.2 - 1.0 mg/dL

57
Q

in case the bilirubin goes up to 3.0 , it will be called as

A

overt jaundice - patient is not yet yellow

58
Q

in case the bilirubin goes up to 5.0 , it will be called as

A

clinical jaundice - madilaw na ang patient

59
Q

Prehepatic hyperbilirubinemia

A

INCREASE b1
INCREASE urobilinogen

NORMAL b2

60
Q

Prehepatic hyperbilirubinemia

causes

A

all related to rbc

malaria
HDN

61
Q

Implies damage to hepatocytes where both types of bilirubin are increased
Increase both B1 and B2

A

Hepatic hyperbilirubinemia

62
Q

responsible for the uptake of the bilirubin in the hepatic cynosoites

A

Gilbert’s syndrome

63
Q

Retention jaundice has an incease in __

A

B1

64
Q

Crigler-Najjar
syndrome (Type I and II)

is absence of

A

UDGPT - conjugating enxyme

65
Q

type 1 Crigler-Najjar
syndrome

A

lack of udpgt

66
Q

type 2 Crigler-Najjar
syndrome

A

few UDGPT

67
Q

syndrome for bilirubin that reached brain is called as

A

Crigler-Najjar syndrome

68
Q

Hepatocyte injury
(hepatocellular) as
seen in:

A

o Viral hepatitis
o Cirrhosis and
alcoholic hepatitis
o Toxic liver injury
o

69
Q

in Hepatocyte injury
(hepatocellular) as, mataas ang

A

b1 and b2

70
Q

Impaired excretion of
products from the
hepatocytes as seen in:

A

o Dubin-Johnson
syndrome
o rotor syndrome
o Viral hepatitis
o Cirrhosis

71
Q

Failure of bile to flow due to obstruction of the biliary tree

A

Increase B2

72
Q

Post-hepatic hyperbilirubinemia
causes

A

o Choledocholelithiasis (stone in the common bile duct)
o Structures and spasm caused by bacteria
o pancreatic sarcoma/ cholangiocarcinoma
o Parasitism

73
Q

number 1 enzyme for the detection of the biliary tree

A

gamma-glutamyl transferas

CYTOLOGY (10 decks)

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