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Cytogenetics > (F) Cytogenetic Disorders (transes-based) > Flashcards

(F) Cytogenetic Disorders (transes-based) Flashcards

1
Q

an abnormal chromosomal number or
alterations in structure of one or more
chromosomes results to?

A

disease

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2
Q

Definition of terms

Complete sets of chromosome with none
extra or missing

A

Euploidy

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3
Q

TOF. The normal human cells are haploid,
having two sets of 23 chromosomes

A

F (diploid)

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4
Q

one or more individual chromosomes are extra or missing from a euploid set

A

aneuploidy

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5
Q

Aneuploidy

Pair 6 chromosomes is an example of?

A

Nullisomy

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6
Q

Aneuploidy

Missing pair of homologs

A

Nullisomy

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7
Q

Aneuploidy

This occurs at preimplantation and can be lethal.

A

Nullisomy

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8
Q

Aneuploidy

One chromosome is missing

A

Monosomy

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9
Q

Aneuploidy

Occurs at embryonic stage and may be lethal.

A

Monosomy

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10
Q

TOF. Turner’s syndrome is an example of trisomy.

A

F (monosomy)

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11
Q

TOF. Triploidy has 3 set of chromosomes while trisomy only has two sets with one chromosome that has an extra copy.

A

T

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12
Q

Aneuploidy

Three copies of a particular
chromosome in an otherwise diploid cel

A

Trisomy

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13
Q

Aneuploidy

TOF. 47, XX or X,Y +21 is an example of triploidy.

A

F (trisomy)

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14
Q

TOF. Trisomy, similarly to monosomy, occurs at embryonic stage and may be lethal.

A

T

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15
Q

Trisomy 21 AKA

A

Down Syndrome

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16
Q

TOF. The incidence of livebirths with people with down syndrome are 1:7000 live births

A

F (1:700)

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17
Q

causes of down syndrome?

A

nondysjunction, translocation and mosaics

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18
Q

TOF. Trisomy 21 and Trisomy 13 have the same causes.

A

T

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19
Q

TOF. Trisomy 13 and Trisomy 18 have the same causes.

A

F (walang translocation sa trisomy 18)

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20
Q

TOF. in trisomy 21, mosaicism is the most common cause.

A

F [nondisjunction 92.5-95% while Mosaicism (< 3%)]

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21
Q

TOF. The translocation as a cause of down syndrome is only 5%.

A

T

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22
Q

Specific Autosomal Aneu.

47,XX or XY + 21

A

Trisomy 21: Nondisjunction

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23
Q

Specific Autosomal Aneu.

46,XX or XY , der(14,21) (q10;q10) + 21

A

Trisomy 21: Translocation

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24
Q

Specific Autosomal Aneu.

○ 47,XX + 21/46,XX
○ 47,XY + 21/46,XY

A

Trisomy 21: Mosaicism

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25
Q

Life expectancy of Nondisjunction: Down Syndrome

A

2nd and 3rd decade of life

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26
Q

Trisomy 21

Life expectancy of Translocation

A

2nd and 3rd decade of life

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27
Q

Trisomy 21

Life expectancy of Mosaicism

A

n/a

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28
Q

Trisomy 18

aka?

A

EDWARD SYNDROME

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29
Q

TRISOMY 13

TOF. 1 in 4,000 to 15,000 live births

A

T

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30
Q

Specific Autosomal Aneu.

47,XX or XY +13

A

Trisomy 13: Nondis

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31
Q

Specific Autosomal Aneu.

46,XX or XY , der(13,14) (q10;q10) + 13

A

Trisomy 13: Trans

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32
Q

Specific Autosomal Aneu.

○ 46,XX/47,XX + 13
○ 46,XY/47,XY + 13

A

Trisomy 13: Mosa

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33
Q

Life expectancy of trisomy 18 and 13 if the cause is translocation?
A. <1 month
B. < 1 week
C. AOTA
D. NOTA

A

D

walang trans sa trisomy 18

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34
Q

Life expectancy of trisomy 18 and 13 if the cause is nondisjunction?
A. <1 month
B. < 1 week
C. AOTA
D. NOTA

A

C (A & B kasi within 1st month)

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35
Q

Trisomy 18

Live births of Trisomy 18
A. 1 in 4000
B. 1 in 8000
C. 1 in 1500
D. 2 in 8000

A

B

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36
Q

Trisomy 18

Mosaicism
A. 46,XX/47,XX +18
B. 46,XX/47,XX + 13
C. AOTA
D. NOTA

A

A

○ 46,XX/47,XX +18
○ 46,XY/47,XY +18

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37
Q

Trisomy 18

Identify Cause: 47,XX or XY +18

A

Nondisjunction

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38
Q

Risk association of autosomal aneuploidies

A

Increased maternal age

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39
Q

TOF. A child with translocation indicates translocation in one of the parents thus karyotyping of mother is needed, to know if there is an increased probability of having another child with Down syndrome due to the risk of maternal age.

A

F (both parents is needed)

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40
Q

At what age is considered to have a high-risk pregnancy?

A

35

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41
Q

Identify disease

A

Trisomy 21: down syndrome

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42
Q

a bands of 21 q22.12-21q22.3 is a common indicator for?

A

down syndrome

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43
Q

Most common of the chromosomal disorders

A

Trisomy 21

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44
Q

FEATURES OF AN INDIVIDUAL WITH DOWN SYNDROME, except:
A. Abundant Neck Skin
B. Low Set Ears
C. Simian Crease
D. Umbilical Hernia
E. Hypotonia

A

B (should be small ears, low ears is for trisomy 18)

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45
Q

Trisomy 21

Which is not true
A. Protruding Tongue
B. Decreased functional activity of the gonads
C. Heart defects occur 50%
D. Obstruction through the
flow of the chyme

A

C(40%)

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46
Q

Idenitfy disorder

A

Trisomy 21

47
Q

Trisomy 21

What leukemia can I get

48
Q

Trisomy 18

FEATURES OF AN INDIVIDUAL WITH EDWARDS SYNDROME, except:
A. Microphthalmia
B. Smaller Mandible
C. Congenital Heart Defects
D. Renal Malformation
E. NOTA

A

A (for trisomy 13 ‘yan)

49
Q

FEATURES OF AN INDIVIDUAL WITH EDWARDS SYNDROME, except:
A. Overlapping Fingers
B. Prominent Parietal
C. Limited Hip Abduction
D. Renal Malformation
E. NOTA

A

B (occiput)

50
Q

Trisomy 13 or 18

Rocker-bottom Feet

51
Q

Identify disorder

A

Trisomy 18

52
Q

Identify disorder

A

Trisomy 13

53
Q

identify disorder

Medtech k da’t alam mo

A

Trisomy 18

54
Q

trisomy 13

FEATURES OF AN INDIVIDUAL WITH PATAU SYNDROME, except:

A. Renal Defects
B. Cleft Palate
C. Cardiac Defects
D. Microphthalmia
E. Overlapping Fingers

A

E (for 18 ‘yan)

55
Q

FEATURES OF AN INDIVIDUAL WITH PATAU SYNDROME, except:

A. Umbilical Hermia
B. Polydactyly
C. Rocker-bottom Feet
D. Punched out Scalp
E. NOTA

56
Q

TOF. Sex chromosome aneuploidies have a lower incidence rate of live births compared to autosomal aneuploidies.

A

F (higher sa sex, 1:500 Live Births)

57
Q

SEX CHROMOSOME ANEUPLOIDIES

TOF. Phenotypically milder than autosomal aneuploidies.

58
Q

SEX CHROMOSOME ANEUPLOIDIES

TOF. Subtle, chronic problems associated with sexual development and fertility.

59
Q

SEX CHROMOSOME ANEUPLOIDIES

tor f
Easy to diagnose at birth and usually recognized
at puberty

A

F (difficult kasi wala pa secondary sexual characteristics)

60
Q

SEX CHROMOSOME ANEUPLOIDIES

t or f

higher the number of X chromosomes in both male and females, the higher the possibility of mental retardation

A

T (XX retarded)

61
Q

47,XXX FEMALES AND 47,XYY MALES

Incidence

62
Q

47,XXX FEMALES AND 47,XYY MALES

features except:
A. Taller than average
B. Abnormal offsprings
C. Learning difficulties
D. Behavioral problems

A

B (fully fertile and have chromosomally normal children)

63
Q

TOF. 46, XY Male are anti-social with criminal tendencies which has been negated by subsequent findings

A

F (47, XXY + males have increased rick for behavioral probelsm)

64
Q

TOF. Klinefelter syndrome are prevalent in male due to paternal nondysjunction.

A

F (maternal, females give off the extra X)

65
Q

TOF. Half of the total cases of Turners Syndrome are secondary to nondysjunction - paternal nondysjunction

67
Q

TOF. The other causes for TURNERS SYNDROME are isochromosome formation, deletion, ring formation, and mosaic while KLINEFELTER are mosaic.

68
Q

One of the most frequent form of sex chromosomal disorders.

A

Klinefelter syndrome

69
Q

KLINEFELTER SYNDROME

TOF. Incidence: 1:500 live female births

70
Q

KLINEFELTER SYNDROME

common effect

A

hypogonadism

71
Q

KLINEFELTER SYNDROME

Difficult to diagnose before puberty due to?

A

lack of development of secondary male sexual characteristics

72
Q

KLINEFELTER SYNDROME

TOF. They experience infertility due to small atrophic testicles with hyalinized somniferous tubules and azoospermia.

73
Q

KLINEFELTER SYNDROME

Features, except:
A. Small Penis
B. Enlarged breast (Gynecomastia)
C. Distinctive Body Habitus
D. Decreased FSH & estradiol
E. NOTA

A

D (increased, it’s for females kaya they’re showing phenotypic female qualities)

47,XXY

+ lower IQ + absence of secondary male characteristics

74
Q

Sex Chromosomal Aneuploidy

Only viable live born monosomy.

A

Turner Syndrome

75
Q

Most common sex chromosomal anomaly in females.

A

TURNER SYNDROME

76
Q

TURNER SYNDROME

TOF. 99% of 45,X conceptuses are non-viable, many believe that there are no truly non-mosaic Tuner syndrome.

77
Q

TURNER SYNDROME

TOF. The critical region of the short arm just proximal to the centromere, PRESENCE, creates this syndrome.

A

F (Absence)

78
Q

TURNER SYNDROME

Features, except:
A. Long stature
B. Amenorrhea
C. Gonadal dysgenesis
D. Normal IQ
E. NOTA

A

A (Short Stature and Typically Obese)

79
Q

TURNER SYNDROME

Features except:
A. Bilateral Neck Webbing
B. Autoantibody to Thyroid (50%) and Glucose
Intolerance
C. Heart and Renal Anomalies
D. Cubitus valgus and Shield Chest
E. NOTA

A

NOTA

+ low hairline

80
Q

PSEUDOHERMAPHRODITISM

Determined by the presence or absence of Y chromosome

A

genetic sex

81
Q

PSEUDOHERMAPHRODITISM

Depends on the histologic characteristics of the gonads

A

Gonadal Sex

82
Q

PSEUDOHERMAPHRODITISM definition

Testicles = Male
Ovary = Female

A

Gonadal sex

83
Q

PSEUDOHERMAPHRODITISM

Depends on presence of derivatives of mullerian or wolffian ducts.

A

Ductal Sex

Fallopian Tubes, Uterus, Cervix, Upper part of the Vagina = Female

84
Q

PSEUDOHERMAPHRODITISM

Depends on the appearance of external genitalia.

o Penis, Scrotum = Male
o Clitoris, Vaginal Vault, Labia Tissues; Labia Minora, Labia Majora = Female

A

Phenotypic or Genital Sex

85
Q

Primary trigger for male external genitalia
development is a gene located on the SHORT ARM OF THE Y CHROMOSOME sex-determining region, SRY

A

PSEUDOHERMAPHRODITISM

86
Q

PSEUDOHERMAPHRODITISM

this initiates the male developmental pathway, a protein produced by the

87
Q

Ambiguous genitalia or genotype/phenotype
mismatch results because of mutations in the genes within this pathway

A

Pseudohermaphroditism

88
Q

Pseudohermaphroditism

Disagreement between gonadal (XX) and phenotypic (male) sex.

A

FEMALE PSEUDOHERMAPHRODITISM (XX MALE)

89
Q

FEMALE PSEUDOHERMAPHRODITISM (XX MALE)

gonad:
phenotype:

A

gonad: female
phenotype: male

90
Q

FEMALE PSEUDOHERMAPHRODITISM (XX MALE)

Congenital adrenal hyperplasia (CAH, AR) causes the increased androgen production → which can cross the placenta → female fetus develops ambiguous genitalia due to deficiency of enzyme?
A. 21-hydroxylase
B. 11-deoxy cortisone
C. AOTA

91
Q

FEMALE PSEUDOHERMAPHRODITISM (XX MALE)

What do you call when there’s a transfer of unique Y loci, together with the SRY (short arm), to the tip of the X chromosome.

A

translocation

Amount of chromosome material involved is
small and can not be detected cytogenically

92
Q

MALE PSEUDOHERMAPHRODITISM

TOF. Genetically males because they are “XY” but they appear to be based on the external genitalia, females.

93
Q

MALE PSEUDOHERMAPHRODITISM

Most complex of all disorder of sexual differentiation due to?

A

Androgen insensitivity / Testicular feminization.

94
Q

MALE PSEUDOHERMAPHRODITISM (XY FEMALE)

Causes of this syndrome except:
A. Androgen receptor gene mutation
B. Translocation
C. TDF/SRY is absent in chromsome Y
D. NOTA

95
Q

MALE PSEUDOHERMAPHRODITISM (XY FEMALE)

Clinical features, except:
A. blind vagina
B. testes in the inguinal
C. infertility
D. functional internal genitalia for Female
E. NOTA

96
Q

Sex chromosomal aneuploidy

Exceedingly complex (sexual ambiguity)

A

HERMAPHRODITISM

97
Q

implies the presence of both ovarian (female gonad) and testicular tissues (male gonadal tissue) (One on each side or ovoteste

A

True hermaphrodite/ism

98
Q

Hermaphroditism

All true, except:
A. Extremely rare
B. Mosaics mostly
C. half of them are genetically female
D. mostly, they are genetically male,
“46,XY”

A

D (rare for men)

99
Q

Sex chromosomal aneuploidy

identify

A

klinefelter

100
Q

Sex chromosomal aneuploidy

Identify

A

Turner Syndrome

101
Q

Here’s a table of Sex Chromosomal Aneuploidy

102
Q

AUTOSOMAL ANEUPLOIDIES or SEX CHROMOSOME ANEUPLOIDIES

47, XXX Females and 47,XYY Males

103
Q

AUTOSOMAL ANEUPLOIDIES or SEX CHROMOSOME ANEUPLOIDIES

Klinefelter Syndrome

104
Q

AUTOSOMAL ANEUPLOIDIES or SEX CHROMOSOME ANEUPLOIDIES

Edward Syndrome

105
Q

AUTOSOMAL ANEUPLOIDIES or SEX CHROMOSOME ANEUPLOIDIES

47, XX + 21

106
Q

AUTOSOMAL ANEUPLOIDIES or SEX CHROMOSOME ANEUPLOIDIES

46, XX + 13der(13,14) (q10, q10)

107
Q

AUTOSOMAL ANEUPLOIDIES or SEX CHROMOSOME ANEUPLOIDIES

Down Syndrome

108
Q

AUTOSOMAL ANEUPLOIDIES or SEX CHROMOSOME ANEUPLOIDIES

Psuedohermaphroditism

109
Q

AUTOSOMAL ANEUPLOIDIES or SEX CHROMOSOME ANEUPLOIDIES

Tuner Syndrome

110
Q

AUTOSOMAL ANEUPLOIDIES or SEX CHROMOSOME ANEUPLOIDIES

Hermaphroditism

111
Q

AUTOSOMAL ANEUPLOIDIES or SEX CHROMOSOME ANEUPLOIDIES

46, Xdel(Xq)

112
Q

AUTOSOMAL ANEUPLOIDIES or SEX CHROMOSOME ANEUPLOIDIES

45, X

113
Q

AUTOSOMAL ANEUPLOIDIES or SEX CHROMOSOME ANEUPLOIDIES

Patau Syndrome

114
Q

AUTOSOMAL ANEUPLOIDIES or SEX CHROMOSOME ANEUPLOIDIES

21q22.12-21q22.3

A

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Cytogenetics (18 decks)

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