(F) Cytogenetic Disorders 2 (transes-based)

Question 1

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

Answer 1

A

AKA 4P- SYNDROME

Question 2

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

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

Answer 2

E

+ developmental delay
+ micrognathia
+ epicanthal fords

Question 3

WOLF-HIRSCHHORN SYNDROME or 4P- SYNDROME

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

Answer 3

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

Question 4

WOLF-HIRSCHHORN SYNDROME or 4P- SYNDROME

TOF. Needs special education but decreased risk for seizures.

Answer 4

F (increased risk for seizures)

Question 5

WOLF-HIRSCHHORN SYNDROME or 4P- SYNDROME

Ways to Diagnose

Answer 5

Karyotyping and FISH

Question 6

Who requests to diagnose 4P syndrome?

Answer 6

Doctor

Question 7

CRI-DU-CHAT

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

Answer 7

B

AKA 5P-SYNDROME

Question 8

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

Answer 8

E (4P)

Question 9

4P, 5P or both

hypertelorism

Answer 9

Both

Question 10

4P, 5P or both

cat-like cry

Answer 10

5P

Question 11

4P, 5P or both

Microcephaly

Answer 11

both

Question 12

4P, 5P or both

low birth weight

Answer 12

5P

Question 13

4P, 5P or both

hypotonia

Answer 13

both

Question 14

4P, 5P or both

frontal bossing

Answer 14

4p

Question 15

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

and maybe large enough to be identified by analysis

Answer 15

Microdeletions

Question 16

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

Answer 16

Microdeletions

Question 17

involve a single to several hundred base pair

and are identified by molecular technology

Answer 17

Molecular Deletions

Question 18

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

Answer 18

Contiguous Gene syndromes

Question 19

WILLIAMS SYNDROME

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

Answer 19

B

Question 20

WILLIAMS SYNDROME

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

Answer 20

F (long arm)

Question 21

WILLIAMS SYNDROME

Unequal meiotic crossover results to?

Answer 21

interstitial deletion

Question 22

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

Answer 22

Elastin

Question 23

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

Answer 23

A

Question 24

William’s Syndrome

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

Answer 24

E

Question 25

# William's Syndrome Except: A. Premature aging of the skin B. Lack of elasticity C. Hypercalcemia D. Slow growth

Answer 25

D

Question 26

# William's Syndrome They can be diagnosed by requesting ?

Answer 26

Karyotype and FISH

Question 27

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

Answer 27

D

Question 28

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

Answer 28

LANGER-GIEDION SYNDROME

Question 29

# LANGER-GIEDION SYNDROME Except: A. fine scalp hair B. bone overgrowth C. skeletal abnormalities D. mental deficiency E. NOTA

Answer 29

E

Question 30

# LANGER-GIEDION SYNDROME Except: A. Missing teeth B. Large ears C. exostosis D. mental deficiency E. NOTA

Answer 30

E

Question 31

Trichorhinophalangeal syndrome” AKA

Answer 31

LANGER-GIEDION SYNDROME

Question 32

# LANGER-GIEDION SYNDROME Diagnosis available

Answer 32

Clinicolradiologic, Karyotyping and molecular genetic analysis

Question 33

# WAGR SYNDROME stands for?

Answer 33

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

Question 34

# WAGR SYNDROME TOF. occurs in 75% of individuals with such syndrome

Answer 34

T

Question 35

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

Answer 35

D

Question 36

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?

Answer 36

11

Question 37

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

Answer 37

hyperphagia & obesity

Question 38

# WAGR SYNDROME TOF. Clinical Manifestation is dependent on the size of the deletion.

Answer 38

T

Question 39

# 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.

Answer 39

T

Question 40

# WAGR To diagnose the case, physicians can request for?

Answer 40

Karyotyping and FISH

Question 41

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

Answer 41

C

Question 42

May also occur by hypermethylation of the promoter sequence

Answer 42

RETINOBLASTOMA

Question 43

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

Answer 43

F (5 y.o.)

Question 44

# RETINOBLASTOMA Physicians can request for

Answer 44

Karyotyping or Southern Blot

Question 45

# RETINOBLASTOMA Those rosettes known as?

Answer 45

Flexner-Wintersteiner Rosettes

Question 46

# Stages of Retino Blastoma 56.1%

Answer 46

Leukoria

Question 47

# Stages of Retino Blastoma There is an increase on the pressure of the eye, this is secondary to the enlargement of the tumor

Answer 47

Glaucomatous

Question 48

# 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.

Answer 48

Extra-ocular

Question 49

# Best known microdeletion syndromes A. PRADER-WILLI B. ANGELMAN SYNDROMES C. BOTH

Answer 49

C

Question 50

# 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

Answer 50

F (different presentations)

Question 51

# PRADER-WILLI and ANGELMAN SYNDROMES Why do they differ on the clinical manifestations/presentations?

Answer 51

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

Question 52

# PRADER-WILLI and ANGELMAN SYNDROMES There will be loss of function of the involved chromosome in this syndrome because the remaining allele will undergo?

Answer 52

Genetic imprinting (silencing the gene expression)

Question 53

# PRADER-WILLI and ANGELMAN SYNDROMES This can be diagnosed by requesting

Answer 53

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

Question 54

# PRADER-WILLI or ANGELMAN SYNDROMES Imprinted: Maternal

Answer 54

P ## Footnote AngelMann is Paternal

Question 55

# PRADER-WILLI or ANGELMAN SYNDROMES Del(15)(q11.2- q13): Paternal

Answer 55

P ## Footnote Angelmann: maternal

Question 56

# PRADER-WILLI or ANGELMAN SYNDROMES Gene: SNRPN

Answer 56

P

Question 57

# PRADER-WILLI or ANGELMAN SYNDROMES UBE3A

Answer 57

A

Question 58

# PRADER-WILLI or ANGELMAN SYNDROMES Description: Happy Puppets

Answer 58

A

Question 59

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

Answer 59

C

Question 60

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

Answer 60

A

Question 61

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

Answer 61

E

Question 62

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

Answer 62

B

Question 63

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

Answer 63

B

Question 64

# RUBINSTEIN-TAYBI SYNDROME Except: A. hypoplastic maxilla B. prominent columella C. beaked nose D. down slanted palpebral fissures E. NOTA

Answer 64

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

Question 65

# RUBINSTEIN-TAYBI SYNDROME Physicians can request for

Answer 65

karyotyping and fish

Question 66

Del 17p11.2, RAI1 gene A. SMITH-MAGENIS SYNDROME B. RUBINSTEIN-TAYBI SYNDROME C. MILLER-DIEKER SYNDROME AND LISSENCEPHALY D. VELOCARDIOFACIAL SYNDROME

Answer 66

A

Question 67

# SMITH-MAGENIS SYNDROME TOF. Not inherited syndrome.

Answer 67

T

Question 68

# SMITH-MAGENIS SYNDROME Deleted during formation of? ## Footnote cell

Answer 68

reproductive cells

Question 69

# SMITH-MAGENIS SYNDROME Except: A. brachycephaly B. broad nasal bridge C. short broad hands D. hyperactivity E. NOTA

Answer 69

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

Question 70

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

Answer 70

SMS

Question 71

# SMS Physicians can request for

Answer 71

karyo and/or FISH

Question 72

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

Answer 72

C

Question 73

# MILLER-DIEKER SYNDROME AND LISSENCEPHALY Except: A. lissencephaly B. craniofacial anomalies C. low forehead D. small nose E. NOTA

Answer 73

C (high) ## Footnote + micrognathia and low set of ears

Question 74

This is is associated with profound mental retardation and seizure episodes ## Footnote syndrome

Answer 74

Lissencephaly

Question 75

# MILLER-DIEKER SYNDROME AND LISSENCEPHALY requested to diagnose this syndrome ## Footnote tests

Answer 75

Karyotyping and FISH

Question 76

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

Answer 76

D

Question 77

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

Answer 77

T

Question 78

# VELOCARDIOFACIAL SYNDROME TOF. Usually diagnosed in puberty.

Answer 78

F ## Footnote 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

Question 79

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

Answer 79

B (posterior positioning of the mandible or maxilla)

Question 80

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

Answer 80

F (loss as seen/observed)

Question 81

del 22q11.2, 10p, 4q, 6q involving ?GCSL gene A. ICHTHYOSIS B. SMS C. DIGEORGE SYNDROME D.KALLMAN SYNDROME

Answer 81

C

Question 82

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

Answer 82

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

Question 83

due to del Xp22.32, involving the STS gene A. ICHTHYOSIS B. SMS C. DIGEORGE SYNDROME D.KALLMAN SYNDROME

Answer 83

A

Question 84

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

Answer 84

D (mental retardation)

Question 85

del Xp22.3, involving the KAL1 gene A. ICHTHYOSIS B. SMS C. DIGEORGE SYNDROME D.KALLMAN SYNDROME

Answer 85

D

Question 86

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

Answer 86

A