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CYTOGEN > CYTOGENETIC DISORDER P.2 > Flashcards

CYTOGENETIC DISORDER P.2 Flashcards

1
Q

2 types of structural anomalies

A

Wolf-Hirschhorn Syndrome and Cri-Du-Chat

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2
Q

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

A

Wolf-Hirschhorn Syndrome

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3
Q

Wolf-Hirschhorn syndrome is also known as?

A

4p Syndrome

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4
Q

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

A

Wolf-Hirschhorn Syndrome

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5
Q

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

A

Wolf-Hirschhorn Syndrome

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6
Q

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

A

Cri-Du-Chat

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7
Q

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

A

Cri-Du-Chat

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8
Q

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

A

Cri-Du-Chat

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9
Q

Cri-Du-Chat is also known as?

A

5p Syndrome

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10
Q

fraction of a single chromosome band

A

Microdeletions

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11
Q

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

A

Microdeletions

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12
Q

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

A

Molecular Deletions

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13
Q

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

A

Contiguous Deletion

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14
Q

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

A

Williams Syndrome

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15
Q

Unequal meiotic crossover → interstitial deletion

A

Williams Syndrome

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16
Q

present with low IQ with behavioral anomalies and hypersensitivity to sound

A

Williams Syndrome

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17
Q

they have blue eyes with stellate pattern in the iris

A

Williams Syndrome

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18
Q

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

A

Williams Syndrome

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19
Q

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

A

Langer-Giedion Syndrome

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20
Q

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

A

Langer-Giedion Syndrome

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21
Q

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

A

Langer-Giedion Syndrome

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22
Q

Clinicolradiologic diagnosis, Karyotyping and molecular genetic analysis

A

Langer-Giedion Syndrome

23
Q

WAGR stands for?

A

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

24
Q

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

A

WAGR Syndrome

25
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 11 (True or False)

A

True

26
Q

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

A

Retinoblastoma

27
Q

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

A

Retinoblastoma

27
Q

What are the 4 different stages of Retinoblastoma?

A

Leukoria, Glauccomatous, Extra-occular, and Reccurence

28
Q

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

A

Glauccamatous

29
Q

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-occular

30
Q

PRADER-WILLI and ANGELMAN
SYNDROMES is best known as?

A

Microdeletions syndrome

31
Q

Prader-willi imprinted by?

A

Maternal

32
Q

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

A

paternal

33
Q

Prader-Willi manifestations?

A

Small but gain weight

34
Q

Angelmann imprinted by?

A

paternal

35
Q

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

A

maternal

36
Q

Angelmann description?

A

Happy puppets

37
Q

Angelmann manifestaions?

A

Severely mental retardation

38
Q

Rubinstein-Taybi Syndrome is also known as?

A

broad thumb-hallux syndrome

39
Q

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

A

Rubinstein-Taybi syndrome

40
Q

It is the Del 17p11.2, RAI1 gene

A

Smith-Magenis Syndrome

41
Q

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

A

Smith-Magenis Sydnrome

42
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

Miller-Dieker syndrome and Lissencephaly

43
Q

Lissencephaly has smooth brain (true or False)

A

True

44
Q

is associated with
profound mental retardation and
seizure episodes

A

Lissencephaly

45
Q

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

A

Velocardiofacial Syndrome

46
Q

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

A

Velocardiofacial SYndrome

47
Q

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

A

Velocardiofacial Syndrome

48
Q

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

A

Digeorge Syndrome

49
Q

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

A

Digeorge Syndrome

50
Q

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

A

ichthyosis

51
Q

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

A

Ichthyosis

52
Q

del Xp22.3, involving the KAL1 gene

A

Kallman Syndrome

53
Q

Individuals with this syndrome present with
Hypogonadism and inability to smell

A

Kallman Syndrome

CYTOGEN (11 decks)

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