CYTOGENETIC DISORDER P.2

Question 1

2 types of structural anomalies

Answer 1

Wolf-Hirschhorn Syndrome and Cri-Du-Chat

Question 2

Individuals with such syndrome are with terminal deletion of the short arm of chromosome 4, del(4)(p16)

Answer 2

Wolf-Hirschhorn Syndrome

Question 3

Wolf-Hirschhorn syndrome is also known as?

Answer 3

4p Syndrome

Question 4

This syndrome has microcephaly, frontal bossing, micrognathia, hypotonia, epicanthal folds, and developmental delay

Answer 4

Wolf-Hirschhorn Syndrome

Question 5

It has Greek warrior’s facial helmet appearance due to arched eyebrows, prominent glabella, hypertelorism, and long beaked nose

Answer 5

Wolf-Hirschhorn Syndrome

Question 6

Individuals with such syndrome have deletion of the short arm of chromosome 5, del(5)(p15)

Answer 6

Cri-Du-Chat

Question 7

People withy this syndrome present with high-pitched, cat-like cry in infancy, low birth weight, slow growth, hypotonia, microcephaly, hypertelorism, mental retardation, and cardiac anomalies

Answer 7

Cri-Du-Chat

Question 8

Patients have delayed development and may reach cognitive and social level of a 5 or 6 year-old.

Answer 8

Cri-Du-Chat

Question 9

Cri-Du-Chat is also known as?

Answer 9

5p Syndrome

Question 10

fraction of a single chromosome band

Answer 10

Microdeletions

Question 11

It can maybe enough to be identified by karyotyping, but most may require FISH

Answer 11

Microdeletions

Question 12

single to several hundred base pair and are identified by molecular technology

Answer 12

Molecular Deletions

Question 13

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

Answer 13

Contiguous Deletion

Question 14

deletion of the elastin gene on the proximal long arm of chromosome 7 (7q11.23)

Answer 14

Williams Syndrome

Question 15

Unequal meiotic crossover → interstitial deletion

Answer 15

Williams Syndrome

Question 16

present with low IQ with behavioral anomalies and hypersensitivity to sound

Answer 16

Williams Syndrome

Question 17

they have blue eyes with stellate pattern in the iris

Answer 17

Williams Syndrome

Question 18

They have prominent lips, hoarse voice, cardiac defects, premature aging skin and hypercalcemia.

Answer 18

Williams Syndrome

Question 19

This is due to del 8q24.11-q24.13, involving the
TRPSI(Tricorhinophalangeal syndrome 1),
TRPSII(Tricorhinophalangeal syndrome 2), EXT
genes

Answer 19

Langer-Giedion Syndrome

Question 20

These individuals present with craniofacial
dysmorphism, exostosis (overgrowth of bone),
skeletal abnormalities, mild to severe mental
deficiency

Answer 20

Langer-Giedion Syndrome

Question 21

They have fine scalp hair, large and prominent ears
and missing teeth

Answer 21

Langer-Giedion Syndrome

Question 22

Clinicolradiologic diagnosis, Karyotyping and molecular genetic analysis

Answer 22

Langer-Giedion Syndrome

Question 23

WAGR stands for?

Answer 23

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

Question 24

This is secondary to deletion on the short arm of
chromosome 11 (11p13.3) involving WT1 gene, AN2
gene causing contiguous gene syndrome

Answer 24

WAGR Syndrome

Question 25

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 11 (True or False)

Answer 25

True

Question 26

The Del 13q14, 1-q14.2, involving Rb gene

Answer 26

Retinoblastoma

Question 27

May also occur by hypermethylation of the promoter sequence and Patients have risk of developing tumors of the retinoblast cells of the eye

Answer 27

Retinoblastoma

Question 27

What are the 4 different stages of Retinoblastoma?

Answer 27

Leukoria, Glauccomatous, Extra-occular, and Reccurence

Question 28

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

Answer 28

Glauccamatous

Question 29

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 29

Extra-occular

Question 30

PRADER-WILLI and ANGELMAN SYNDROMES is best known as?

Answer 30

Microdeletions syndrome

Question 31

Prader-willi imprinted by?

Answer 31

Maternal

Question 32

Prader-Willi del(15)(q11.2-q13) by?

Answer 32

paternal

Question 33

Prader-Willi manifestations?

Answer 33

Small but gain weight

Question 34

Angelmann imprinted by?

Answer 34

paternal

Question 35

Angelmann del(15)(q11.2-q13) by?

Answer 35

maternal

Question 36

Angelmann description?

Answer 36

Happy puppets

Question 37

Angelmann manifestaions?

Answer 37

Severely mental retardation

Question 38

Rubinstein-Taybi Syndrome is also known as?

Answer 38

broad thumb-hallux syndrome

Question 39

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

Answer 39

Rubinstein-Taybi syndrome

Question 40

It is the Del 17p11.2, RAI1 gene

Answer 40

Smith-Magenis Syndrome

Question 41

It is Not inherited syndrome and Deleted during formation of reproductive cells

Answer 41

Smith-Magenis Sydnrome

Question 42

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

Answer 42

Miller-Dieker syndrome and Lissencephaly

Question 43

Lissencephaly has smooth brain (true or False)

Answer 43

True

Question 44

is associated with profound mental retardation and seizure episodes

Answer 44

Lissencephaly

Question 45

It is the most common microdeletion syndrome, occurring in 1:4,000 live births but not often recognized

Answer 45

Velocardiofacial Syndrome

Question 46

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

Answer 46

Velocardiofacial SYndrome

Question 47

It is Usually diagnosed in 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

Answer 47

Velocardiofacial Syndrome

Question 48

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

Answer 48

Digeorge Syndrome

Question 49

Characteristic facies, cleft palate, heart defect, hypoplasia of the thymus (where T lymphocytes mature) with resultant T-cell immunodeficiency, parathyroid hypoplasia giving rise to severe hypocalcemia, and seizure episodes

Answer 49

Digeorge Syndrome

Question 50

It s is due to del Xp22.32, involving the STS gene

Answer 50

ichthyosis

Question 51

Individuals with this syndrome present with scaly skin, short stature, hypogonadism and mental retardation

Answer 51

Ichthyosis

Question 52

del Xp22.3, involving the KAL1 gene

Answer 52

Kallman Syndrome

Question 53

Individuals with this syndrome present with Hypogonadism and inability to smell

Answer 53

Kallman Syndrome