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Cytogenetics > (F) Cytogenetic Disorders 2 (transes-based) > Flashcards

(F) Cytogenetic Disorders 2 (transes-based) Flashcards

1
Q

WOLF-HIRSCHHORN SYNDROME

A. 4, del(4)(p16)
B. 5, del(5)(p15)
C. 7 (7q11.23)
D. 8q24.11-q24.13

Identify its chromosome

A

A

AKA 4P- SYNDROME

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2
Q

Features of a WOLF-HIRSCHHORN SYNDROME or 4P- SYNDROME

Except:
A. Hypotonia
B. Microcephaly
C. Frontal bossing
D. Epicanthal folds
E. NOTA

A

E

+ developmental delay
+ micrognathia
+ epicanthal fords

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3
Q

WOLF-HIRSCHHORN SYNDROME or 4P- SYNDROME

TOF. Greek warrior’s facial helmet appearance due to FLEEKED eyebrows, HIDDEN glabella, HYPOTELORISM, and SHORT beaked nose.

A

F (arched eyebrows, prominent glabella, hypertelorism, and long beaked nose)

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4
Q

WOLF-HIRSCHHORN SYNDROME or 4P- SYNDROME

TOF. Needs special education but decreased risk for seizures.

A

F (increased risk for seizures)

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5
Q

WOLF-HIRSCHHORN SYNDROME or 4P- SYNDROME

Ways to Diagnose

A

Karyotyping and FISH

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6
Q

Who requests to diagnose 4P syndrome?

A

Doctor

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7
Q

CRI-DU-CHAT

A. 4, del(4)(p16)
B. 5, del(5)(p15)
C. 7 (7q11.23)
D. 8q24.11-q24.13

A

B

AKA 5P-SYNDROME

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8
Q

CRI-DU-CHAT or 5P-SYNDROME

Except:
A. Epicanthal folds
B. Cardiac anomalies
C. Mental retardation
D. 6 y.o. Social/Cognitive level
E. Micrognathia

A

E (4P)

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9
Q

4P, 5P or both

hypertelorism

A

Both

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10
Q

4P, 5P or both

cat-like cry

A

5P

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11
Q

4P, 5P or both

Microcephaly

A

both

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12
Q

4P, 5P or both

low birth weight

A

5P

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13
Q

4P, 5P or both

hypotonia

A

both

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14
Q

4P, 5P or both

frontal bossing

A

4p

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15
Q

involve a fraction of a single chromosome band (>500 kb)

and maybe large enough to be identified by analysis

A

Microdeletions

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16
Q

aybe large enough to be identified by karyotype analysis but most may require FISH for detection

A

Microdeletions

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17
Q

involve a single to several hundred base pair

and are identified by molecular technology

A

Molecular Deletions

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18
Q

are those that are due to deletions that encompass several adjacent (magkakatabi), unrelated genes resulting in variable phenotypic expression

A

Contiguous Gene syndromes

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19
Q

WILLIAMS SYNDROME

A. 4, del(4)(p16)
B. 7 (7q11.23)
C. 5, del(5)(p15)
D. 8q24.11-q24.13

A

B

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20
Q

WILLIAMS SYNDROME

TOF. Deletion of the elastin gene (ELN gene) on the proximal short arm of chromosome 7 (7q11.23)

A

F (long arm)

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21
Q

WILLIAMS SYNDROME

Unequal meiotic crossover results to?

A

interstitial deletion

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22
Q

WILLIAMS SYNDROME

important component of tissues in the heart, blood vessels, skin, and vocal cords is absent among these patients, thus the clinical features, except behavioral anomalies which may be explained as a contiguous gene syndrome

A

Elastin

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23
Q

WILLIAMS SYNDROME

Except:
A. Missing teeth
B. Hypersensitivity to sound
C. Low IQ with behavioral anomalies
D. Blue eyes with stellate pattern in the iris
E. NOTA

A

A

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24
Q

William’s Syndrome

Except:
A. Prominent lips with hoarse voice
B. Premature aging of the skin
C. Supravalvular aortic stenosis
D. Hypertension
E. NOTA

A

E

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25
Q

William’s Syndrome

Except:
A. Premature aging of the skin
B. Lack of elasticity
C. Hypercalcemia
D. Slow growth

A

D

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26
Q

William’s Syndrome

They can be diagnosed by requesting ?

A

Karyotype and FISH

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27
Q

LANGER-GIEDION SYNDROME

A. 4, del(4)(p16)
B. 7 (7q11.23)
C. 5, del(5)(p15)
D. 8q24.11-q24.13

A

D

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28
Q

involving the TRPSI(Tricorhinophalangeal syndrome 1), TRPSII(Tricorhinophalangeal syndrome 2), EXT genes

A

LANGER-GIEDION SYNDROME

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29
Q

LANGER-GIEDION SYNDROME

Except:
A. fine scalp hair
B. bone overgrowth
C. skeletal abnormalities
D. mental deficiency
E. NOTA

A

E

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30
Q

LANGER-GIEDION SYNDROME

Except:
A. Missing teeth
B. Large ears
C. exostosis
D. mental deficiency
E. NOTA

A

E

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31
Q

Trichorhinophalangeal syndrome” AKA

A

LANGER-GIEDION SYNDROME

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32
Q

LANGER-GIEDION SYNDROME

Diagnosis available

A

Clinicolradiologic, Karyotyping and molecular genetic analysis

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33
Q

WAGR SYNDROME

stands for?

A

Wilm’s tumor, Aniridia, Genitourinary defects and mental Retardation

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34
Q

WAGR SYNDROME

TOF. occurs in 75% of individuals with such syndrome

A

T

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35
Q

WAGR SYNDROME

Except:
A. AN2 gene
B. WT1 gene
C. 11 (11p13.3)
D. NOTA

36
Q

Except for Wilm’s Tumor locus, each of the three other anomalies (aniridia, genitourinary defects and mental retardation) has been associated with a particular gene arranged in tandem on the short arm of chromosome?

37
Q

Deletion of one copy of PAX6 gene –> aniridia & MR; 4. brain derive neurotrophic factor (BDNF gene) –> ??

A

hyperphagia & obesity

38
Q

WAGR SYNDROME

TOF. Clinical Manifestation is dependent on the size of the deletion.

39
Q

WAGR SYNDROME

TOF. Patients with aniridia has 1:3 chance of developing Wilm’s tumor but patients with Wilm’s tumor have 1:50 chance of having aniridia.

40
Q

WAGR

To diagnose the case, physicians can request for?

A

Karyotyping and FISH

41
Q

RETINOBLASTOMA

A. 1-q14.2
B. Del 13q14
C. Both
D. Neither

42
Q

May also occur by hypermethylation of the promoter sequence

A

RETINOBLASTOMA

43
Q

RETINOBLASTOMA

TOF. 90% of individuals with retinoblastoma are diagnosed
afer puberty.

A

F (5 y.o.)

44
Q

RETINOBLASTOMA

Physicians can request for

A

Karyotyping or Southern
Blot

45
Q

RETINOBLASTOMA

Those rosettes known as?

A

Flexner-Wintersteiner Rosettes

46
Q

Stages of Retino Blastoma

56.1%

47
Q

Stages of Retino Blastoma

There is an increase on the pressure of the eye, this is secondary to the enlargement of the tumor

A

Glaucomatous

48
Q

Stages of Retino Blastoma

With the continuous enlargement, there will be outgrowth/extraocular growth of the tumor. This will be enucleated, the eye will be removed with the tumor.

A

Extra-ocular

49
Q

Best known microdeletion syndromes

A. PRADER-WILLI
B. ANGELMAN SYNDROMES
C. BOTH

50
Q

PRADER-WILLI and ANGELMAN SYNDROMES

TOF. Share the same interstitial deletion of the proximal
long arm of chromosome 15, del(15)(q11.2-q13), and same clinical manifestations/presentations

A

F (different presentations)

51
Q

PRADER-WILLI and ANGELMAN SYNDROMES

Why do they differ on the clinical manifestations/presentations?

A

It depends on whether a paternally or maternally-derived chromosome 15 is involved

52
Q

PRADER-WILLI and ANGELMAN SYNDROMES

There will be loss of function of the involved chromosome in this syndrome because the remaining allele will undergo?

A

Genetic imprinting (silencing the gene expression)

53
Q

PRADER-WILLI and ANGELMAN SYNDROMES

This can be diagnosed by requesting

A

Karyotyping and FISH (detect 80-85% of cases)

54
Q

PRADER-WILLI or ANGELMAN SYNDROMES

Imprinted: Maternal

A

P

AngelMann is Paternal

55
Q

PRADER-WILLI or ANGELMAN SYNDROMES

Del(15)(q11.2- q13): Paternal

A

P

Angelmann: maternal

56
Q

PRADER-WILLI or ANGELMAN SYNDROMES

Gene: SNRPN

57
Q

PRADER-WILLI or ANGELMAN SYNDROMES

UBE3A

58
Q

PRADER-WILLI or ANGELMAN SYNDROMES

Description: Happy Puppets

59
Q

Angelmann Manifestations

Except:
A. Friendly
B. Severely Mental Retardation
C. Obese
D. Short
E. Hyperactive

60
Q

Angelmann Manifestations

Except:
A. Hypogonadism
B. Micro-cephalic
C. Seizure, Ataxic
D. Inappropriate laughter
E. NOTA

61
Q

PRADER-WILLI

Except:
A. Small
B. Hypotonic at birth
C. Small hands and feet
D. Bad temper
E. NOTA

62
Q

Broad Thumb-Hallux syndrome; AD mostly acquired
A. SMITH-MAGENIS SYNDROME
B. RUBINSTEIN-TAYBI SYNDROME
C. MILLER-DIEKER SYNDROME AND LISSENCEPHALY
D. VELOCARDIOFACIAL SYNDROME

63
Q

Del 16p13.3, CREBBP gene, regulates cell growth & division for normal fetal development; EP300 gene,
small % of cases

A. SMITH-MAGENIS SYNDROME
B. RUBINSTEIN-TAYBI SYNDROME
C. MILLER-DIEKER SYNDROME AND LISSENCEPHALY
D. VELOCARDIOFACIAL SYNDROME

64
Q

RUBINSTEIN-TAYBI SYNDROME

Except:
A. hypoplastic maxilla
B. prominent columella
C. beaked nose
D. down slanted palpebral fissures
E. NOTA

A

E

+ broad thumbs and first toes, hirsutism, short stature, MR and speech delay

65
Q

RUBINSTEIN-TAYBI SYNDROME

Physicians can request for

A

karyotyping and fish

66
Q

Del 17p11.2, RAI1 gene

A. SMITH-MAGENIS SYNDROME
B. RUBINSTEIN-TAYBI SYNDROME
C. MILLER-DIEKER SYNDROME AND LISSENCEPHALY
D. VELOCARDIOFACIAL SYNDROME

67
Q

SMITH-MAGENIS SYNDROME

TOF. Not inherited syndrome.

68
Q

SMITH-MAGENIS SYNDROME

Deleted during formation of?

cell

A

reproductive cells

69
Q

SMITH-MAGENIS SYNDROME

Except:
A. brachycephaly
B. broad nasal bridge
C. short broad hands
D. hyperactivity
E. NOTA

A

E

+prominent jaw, mental retardation, delayed speech, self-destructive behavior

70
Q

Two stereotypic behaviors, spasmodic upper body squeeze or “self-hug” and hand licking and page flipping (“lick and flip”), seem to be specific to?

syndrome

71
Q

SMS

Physicians can request for

A

karyo and/or FISH

72
Q

Microdeletion of the distal short arm of chromosome 17 (17p13.3) involving the LIS1 gene, with deletion of at least two genes; AD

A. SMITH-MAGENIS SYNDROME
B. RUBINSTEIN-TAYBI SYNDROME
C. MILLER-DIEKER SYNDROME AND LISSENCEPHALY
D. VELOCARDIOFACIAL SYNDROME

73
Q

MILLER-DIEKER SYNDROME AND LISSENCEPHALY

Except:
A. lissencephaly
B. craniofacial anomalies
C. low forehead
D. small nose
E. NOTA

A

C (high)

+ micrognathia and low set of ears

74
Q

This is is associated with profound mental retardation and seizure episodes

syndrome

A

Lissencephaly

75
Q

MILLER-DIEKER SYNDROME AND LISSENCEPHALY

requested to diagnose this syndrome

tests

A

Karyotyping and FISH

76
Q

3 Mb deletion on the proximal long arm of chromosome 22 (22q11.2), ?GCSL gene

A. SMITH-MAGENIS SYNDROME
B. RUBINSTEIN-TAYBI SYNDROME
C. MILLER-DIEKER SYNDROME AND LISSENCEPHALY
D. VELOCARDIOFACIAL SYNDROME

77
Q

VELOCARDIOFACIAL SYNDROME

TOF. Possibly the most common microdeletion syndrome, occurring in 1:4,000 live births but not often recognized.

78
Q

VELOCARDIOFACIAL SYNDROME

TOF. Usually diagnosed in puberty.

A

F

newborns because of feeding difficulties
due to presence of palatal abnormalities (cleft palate), cardiac defects (75% of these patients), and characteristic facial dysmorphisms with prominent nose and retrognathia

79
Q

VELOCARDIOFACIAL SYNDROME

Except:
A. retrognathia
B. abnormal anterior of the maxilla
C. overbite
D. prominent nose
E. NOTA

A

B (posterior positioning of the mandible or maxilla)

80
Q

VELOCARDIOFACIAL SYNDROME

TOF. As the baby matures learning disabilities, short stature, and conductive hearing improves.

A

F (loss as seen/observed)

81
Q

del 22q11.2, 10p, 4q, 6q involving ?GCSL gene

A. ICHTHYOSIS
B. SMS
C. DIGEORGE SYNDROME
D.KALLMAN SYNDROME

82
Q

DIGEORGE SYNDROME

Except:
A. cleft palate
B. heart defect
C. hypoplasia of the thymus
D.T-cell immunodeficiency
E. NOTA

A

E

+ parathyroid hypoplasia giving rise to severe hypocalcemia, and seizure episode

83
Q

due to del Xp22.32, involving the STS gene

A. ICHTHYOSIS
B. SMS
C. DIGEORGE SYNDROME
D.KALLMAN SYNDROME

84
Q

ICHTHYOSIS

Except:
A. scaly skin
B. short stature
C. hypogonadism
D. seizures
E. NOTA

A

D (mental retardation)

85
Q

del Xp22.3, involving the KAL1 gene

A. ICHTHYOSIS
B. SMS
C. DIGEORGE SYNDROME
D.KALLMAN SYNDROME

86
Q

KALLMAN SYNDROME

Except:
A. Mental Retardation
B. Hypogonadism
C. Loss of smell
D. NOTA

Cytogenetics (18 decks)

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