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cytogenetics > finals 20% > Flashcards

finals 20% Flashcards

1
Q
  • Genetic abnormalities can already
    be diagnosed even before birth
    (within the womb)
A

Prenatal Cytogenetics

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2
Q
  • Genetic abnormalities can be
    diagnosed after birth
A

Postnatal Cytogenetics

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3
Q
  • Babies are born at a normal
    pregnancy but manifests a
    genetic abnormality later in life
    (either physical or mental
    disabilities)
A

Childhood and Adult Cytogenetics

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4
Q

_______ Syndrome
Features:
○ Flat nose bridge
○ Slanted eyes
○ Broad and prominent palpebral fissures

A

down

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5
Q

Rate of biological eliminations:
○ __% of 45,X

A

95

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6
Q

rate of biological eliminations
__% of Trisomy 13

A

90

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7
Q

rate of biological eliminations
__% of Trisomy 18

A

80

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8
Q

rate of biological eliminations: __% of Trisomy 21

A

65

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9
Q

15% of recognized pregnancies end in
spontaneous fetal loss, 80% of which occur
during the ____trimester (first 3 months)

A

first

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10
Q
  • the most common
    chromosomal error in spontaneous losses
A

45,X (Turner Syndrome)

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11
Q
  • the most common trisomy seen in
    abortus
A

Trisomy 16

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12
Q

INDICATIONS FOR __________ CYTOGENETICS:
1. Screening for maternal age-related risk
2. Family history of previous child with
chromosomal abnormalities
3. Abnormal levels of AFP (Alpha-fetoprotein)
in a screening test

A

PRENATAL

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13
Q
  1. A fetal abnormality detected on ultrasound
  2. A parent who is a carrier of unbalanced
    gametes
  3. A parent who is a carrier of X-linked genetic
    disorder

are indications for _________ cytogenetics

A

prenatal

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14
Q

Karyotype analysis on both biological parents is used
to differentiate between an inherited rearrangement
and a ?

A

“de novo” anomaly in the child

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15
Q

This pose less risk for
related impairment than “de novo” inheritance but
may recur in future pregnancies

A

Inherited rearrangement

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16
Q

Approximately 0.6% - 1% if all newborns have
gross chromosomal abnormality
___________ cytogenetics

A

postnatal cytogenetics

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17
Q

INDICATIONS FOR __________ CYTOGENETICS:
1. Presence of multiple congenital anomalies
2. Suspected aneuploidy (e.g: features of
Down Syndrome)

A

POSTNATAL

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18
Q

● Some genetic disorders manifest in later life
● One of the most difficult diagnostic problem such
that other than cytogenetic studies, molecular
biochemical studies may be needed

____________CYTOGENETICS

A

CHILDHOOD AND ADULT CYTOGENETICS

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19
Q

INDICATIONS FOR ______________
CYTOGENETICS
1. Unexplained mental retardation or
developmental delay
2. Suspected unbalanced autosome (ex:
Prader-Willi syndrome)
3. Suspected sex chromosomal abnormality
(ex: Turner syndrome)

A

CHILDHOOD AND ADULT

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20
Q
  1. Suspected fragile-X syndrome
  2. Infertility – to rule out sex chromosomal
    abnormality
  3. Multiple spontaneous abortions – to rule
    out the parents as carriers of balanced
    translocations where both parents should
    be evaluated

are indications for?

A

adult and chldhood cytogeneticx

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21
Q

Defect on Chromosome 15
○ Insatiable appetite
○ Higher threshold for pain

what syndrome is thiz

A

prader-willi syndrome

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22
Q

○ Outbursts of rage
○ There may be sleep disorders and
abnormalities
○ Compulsive behaviors such as
picking at the skin and even
psychoses

what syndrome iz this

A

prader-willi

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23
Q

Defect on Chromosome 15
○ Uncontrollable laughing
○ Ataxia
○ Mental disabilities
○ Physical disabilities

what syndrome

A

angelman syndrome

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24
Q

Specific chromosome rearrangements are directly
associated with ?

A

tumorigenesis

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25
Q
  1. Confirm a clinical diagnosis
  2. Monitor disease progression – relapse and
    disease progression
  3. Monitor patient’s response to therapy –
    successful treatment results in cytogenetic
    remission

are indicators for?

A

cancer cytogeneticx

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26
Q

a valuable tool in clinical oncology studies

A

FISH

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27
Q

In ______, we label the antibodies with
fluorescent dye that are used against the
antigen (mga chromosomal
abnormalities). If they bind together, they
will fluoresce

A

FISH

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28
Q

_________of signals - occur if the translocation
results in separation of two probes generating
two-different colored signals in place of the
original single-color signal

A

Splitting

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29
Q

________ of signals occur if the translocation results
in the relocation of 2 different probes into proximity
causing generation of a new color

A

Fusion (CENTRIC OR ROBERTSONIAN TRANSLOC)

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30
Q

t(9;22)(q34;q11.2)

A

acute lymphoblastic leukemia (ALL),

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31
Q

t(8:;21)(q22;q22)

A

acute myeloid leukemia (AML),

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32
Q

t(9;22)(q34.1;q11.2);

A

chronic myeloid leukemia (CML),

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33
Q

_____—- for BCR locus on chromosome
22

A

Green

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34
Q

___________________- will give two green and two red signals for the ABL and BCR alleles in each cell

A

Normal chromosome

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35
Q

formed with the
● fusion of green and red signals

A

A yellow signal

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36
Q

The ABL is located in the near end of the long arm
of chromosome 9 and the BCR gene is near the
centromere of the long arm of chromosome 22.

A

PHILADELPHIA CHROMOSOME

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37
Q

The chromosome break occurs in the ABL and
BCR gene which prompts the translocation.

A

PHILADELPHIA CHROMOSOME

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38
Q

The derivative chromosome 22 is also known as
the ?

A

Philadelphia chromosome

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39
Q

It detects all nucleated cells both normal
and abnormal,

A

FISH

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40
Q

Karyotyping can only be performed on
_______ cells

A

dividing

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41
Q

The ________- will identify the chromosomal abnormalities

A

karyotype

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42
Q

________ will establish the baseline frequency
of leukemic clones which can be used as
reference point for all the patients’ future
testing

A

FISH

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43
Q

__________- has also been used to study
leukemic cell lines

A

Multicolor FISH

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44
Q

Which of the following specimens is not used
for prenatal cytogenetic testing?
A. Umbilical cord blood
B. Fetal bladder aspirate
C. Amniotic fluid
D. Chorionic villi

A

B. FETAL BLADDER ASPIRATE

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45
Q

Although chromosomal abnormalities are
present in 1:3 conceptuses, only 6:1000 live
births manifest the disorder. Which of the
following explains this low incidence at birth?
A. Repair mechanism of recognized errors
B. Biological elimination of recognized errors
C. Poor identification of genetic abnormalities
D. Low interest on genetic abnormalities

A

B. Biological elimination of recognized errors

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46
Q

Genetic abnormalities are not seen in which of
the following individuals
A. Seemingly normal
B. With gross deformities
C. With confirmed genetic disorder
D. None of these

A

NONE

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47
Q

Philadelphia chromosome or abl-bcr fusion
gene is a diagnostic of which of the following
hematopoietic malignancy?
A. Acute myelogenous leukemia
B. Acute lymphoblastic leukemia
C. Chronic myelogenous leukemia
D. Chronic lymphocytic leukemia

A

C. Chronic myelogenous leukemia

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48
Q

Diseases with abnormal chromosomal number or alterations in structure of one or more chromosomes

A

cytogenetics disorders

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49
Q

complete sets of chromosomes with
none extra or missing.

The normal cells are diploid, having 2 sets of 23 chromosomes

A

euploidy

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50
Q

opposite of euploidy; where 1 or more individual chromosomes are with extra or missing from a euploid set

A

aneuploidy

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51
Q

missing pair of homologs
■ Ex: pair of chromosomes 6

A

nullisomy

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52
Q

1 chromosome is missing
■ Ex: Monosomy X (45,X); occurs at
embryonic stage; lethal

A

monosomy

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53
Q

3 copies of a particular
chromosome in an otherwise diploid cell
■ Ex: Trisomy 21 (47, XX or XY
+21); embryonic or fetal stage which may be lethal

A

trisomy

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54
Q

TRISOMY __ (DOWN SYNDROME)
● Mostcommon of the chromosomal disorders
● Majorcause of mental retardation
● Bands21q22.12-21q22.3

A

trisomy 21

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55
Q

➢ Mentalretardation
➢ Prominentepicanthic fold
➢ Flatfacial profile
➢ Simiancrease
➢ Congenitalheart defects
are manifestations of

A

trisomy 21

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56
Q

➢ Umbilicalhernia
➢ Intestinalstenosis
➢ Hypotonia→ muscleweakness→ called Floppy
babies
➢ Heartdefects (40%)
hypogonadism

are manifestations of

A

TRISOMY 21

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57
Q

Facial features of?
➢ Flatfaces ➢ Smallears ➢ Protrudingtongue

A

trisomy 21

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58
Q

Clinical manifestations of?
➢ Lowbirth weight
➢ Heartdefect
➢ Overlappingfingers
➢ Rockerbottomfeet

A

trisomy 18 Edward syndrome

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59
Q

Clinical manifestations of?
➢ Mentalretardation
➢ Microcephaly(smaller head)
➢ Microphthalmia(smaller eyes)
➢ Polydactyly(extra fingers)
➢ Cleftlip and palate

A

trisomy 13 patau syndrome

60
Q

SEX CHROMOSOME ANEUPLOIDIES incidence:

A

1:500 livebirths

61
Q

● Phenotypicallymilder than autosomal aneuploidies
● Subtle, chronic problems associated with sexual
development and fertility
● Difficultto diagnose at birth and usually
recognized at puberty

A

sex chromosome aneuploidies

62
Q

● Difficultto diagnose at birth and usually
recognized at puberty (when secondary sex characteristics develop)
● Thehigher the number of X chromosomes in both
male and female, the higher the possibility of mental retardation

A

sex chromosome aneuploidies

63
Q

➔ 47, XXX females and 47, XYY males
➔ Klinefelter Syndrome
➔ Turner Syndrome
➔ Pseudohermaphroditism
➔ Hermaphroditism

A

sex chromosome aneuploidies

64
Q

● Oftengo undetected throughout life
● Incidence1:1000
● Fullyfertile and have chromosomally normal
children

A

47 XXX FEMALES AND 47 XYY MALES

65
Q

● XXYmales have increased risk for behavioral
problems and are anti-social with criminal tendencies which has been negated by subsequent findings

A

47 XXX FEMALES AND 47 XYY MALES

66
Q

Clinical manifestations of??
➢ Tallerthan average
➢ Somewith generalized learning difficulties
identified in school screening programs

A

47 XXX FEMALES AND 47 XYY MALES

67
Q

● Oneof the most frequent sec chromosomal
disorders
● Incidence: 1:500 live male births
● Oneof the most common causes of hypogonadism
in male

A

KLINEFELTER SYNDROME

68
Q

● Rarelydiagnosed before puberty
● Postpubertalhypogonadism
● Infertilitydue to small atrophic testicles with
hyalinized seminiferous tubules and azoospermia

A

KLINEFELTER SYNDROME

69
Q

Clinical manifestations of?
➢ Distinctivebody habitus
➢ Talland thin with long legs
➢ Smallpenis
➢ Absenceof 2nd malesex characteristics

A

KLINEFELTER SYNDROME

70
Q

➢ Gynecomastia(breast development)
➢ LowerIQ
➢ IncreasedFSH and estradiol

are clinical manifestations of

A

KLINEFELTER SYNDROME

71
Q

○ Morephysical abnormalities
○ Cryptorchidism(testicles are
undescended)
○ Hypospadias(orifice of urethra is located
on the under surface of the penis

A

PolysomicX (47,XXY/48,XXXY)
○ cause din sha ng Klinefelter Syndrome

72
Q

○ Prognathism
○ Severetesticular hypoplasia
○ Radioulnarsynostosis (connection
between radius and ulna - difficulty in movement

A

PolysomicX (47,XXY/48,XXXY)

73
Q

● Mostcommon sex chromosomal anomaly in
female
● Onlyviable in live born monosomy

A

turner syndrome

74
Q

Thecritical region for female differentiation is at the
region of the short arm just proximal to the centromere
○ ABSENCE→ ??

A

turner syndrome

75
Q

➢ Lowposterior hairline
➢ Heartand renal anomalies
➢ Cubitusvalgus and shield chest
➢ Autoantibodyto thyroid (50%)
➢ Glucoseintolerance
➢ Obesity
are manifestations of

A

turner syndrome

76
Q

_______ sex - determined presence or
absence of Y chromosome → IfY is present, individual is a

A

Genetic

77
Q

______ sex - histologic characteristics of the gonads

→ Ifone has seminiferous tubules with developing sperm cells, individual is a male
→ Ifone has ovarian follicles, individual i s a female

A

gonadal

78
Q

______ sex - depends on the presence of
derivatives of mullerian or wolfian ducts

A

ductal

79
Q

__________produced by TDF initiates the male
developmental pathway

A

proteins

80
Q

● Disagreementbetween gonadal (XX) and
phenotypic (male) sex
● Congenitaladrenal hyperplasia due to deficiency of
enzyme 21-hydroxylase

A

FEMALE PSEUDOHERMAPHRODITISM (XX MALE

81
Q

Clinical features of?
➢ Normalovaries and internal genitalia
➢ Externalgenitalia is ambiguous or virilized

A

FEMALE PSEUDOHERMAPHRODITISM (XX MALE

82
Q

Mostcomplex of all disorders of sexual
differentiation
○ Androgeninsensitivity/Testicular
feminization
■ Androgen receptor gene mutation,
located in the long arm: Xq11-Xq12
○ TDF/SRY is absent in the Y chromosome
due to translocation

A

MALE PSEUDOHERMAPHRODITISM (XY FEMALE)

83
Q

Clinical features of
➢ Lackof any internal genitalia
➢ Blind vagina
➢ Testes in the abdomen or inguinal canal causing
infertility

A

MALE PSEUDOHERMAPHRODITISM (XY FEMALE)

84
Q

● Exceedinglycomplex (sexual ambiguity)
● Truehermaphrodites = both ovarian and testicular
tissues (one on each side or ovotestes

A

HERMAPHRODITISM

85
Q

● Extremelyrare
● Mostcommon karyotype: 46,XX (50%); the rest
mostly are mosaic: 46,XX/46,XY karyotype; rarely 46,XY

A

HERMAPHRODITISM

86
Q
  • Diseases with abnormal chromosomal number or
    alterations in structure of one or more chromosomes
A

CYTOGENETIC DISORDERS

87
Q

● Terminal deletion of the short arm of chromosome
4, del(4)(p16)

A

WOLF-HIRSCHHORN SYNDROME (4P-)

88
Q

Clinical manifestations of?
➢ Microcephaly
➢ Frontal bossing
➢ Micrognathia (small jaw)
➢ Hypotonia
➢ Epicanthal folds
➢ Developmental delay

A

WOLF-HIRSCHHORN SYNDROME (4P-)

89
Q

● Greek warrior facial helmet appearance due to
arched eyebrows, prominent glabella,
hypertelorism, and long beaked nose

A

WOLF-HIRSCHHORN SYNDROME (4P-)

90
Q

● Special education and are at risk for seizures
➔ Diagnosis: Karyotyping and FISH

A

wolf-hirschhorn syndrome

91
Q

● Deletion of the short arm of chromosome 5, del
(5)(p15)

A

CRI-DU-CHAT SYNDROME (5P-)

92
Q

Clinical manifestations of?
➢ High-pitched cat like cry
➢ Low birth weight
➢ Slow growth
➢ Hypotonia
➢ Microcephaly
➢ Hypertelorism
➢ Epicanthal folds
➢ Cardiac anomalies
➢ Mental retardation

A

cri-du-chat syndrome

93
Q

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

A

cri du chat syndrome

94
Q

nvolve a fraction of a single
chromosome band (>500 kb) and may be large
enough to identify by karyotype analysis but most
may require FISH for detection

A

Microdeletions

95
Q

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

A

Molecular Deletions

96
Q
  • those that are due
    to deletions that encompass several adjacent,
    unrelated genes resulting in variable phenotypic
    expression
A

Contiguous Gene Syndrome

97
Q

● Deletion of the elastin gene (ELN gene) on the
proximal long arm of chromosome 7 (7q11.23)
● Unequal meiotic crossover → interstitial deletion

A

WILLIAM’’S SYNDROME

98
Q

Elastin is important in:
○ Heart
○ Blood vessels
○ Skin
○ Vocal cords

→ is absent among these patients, thus the clinical
features except behavioral anomalies which may be
explained as a contiguous gene syndrome

what syndrome

A

william’s syndrome

99
Q

Clinical manifestations of?
➢ Low IQ with behavioral anomalies
➢ Hypersensitivity to sound
➢ Blue eyes with stellate pattern in the iris
➢ Prominent lips with hoarse voice
➢ Supravalvular aortic stenosis and other cardiac
defects
➢ Hypertension
➢ Premature aging of the skin
➢ Hypercalcemia

A

william’s syndrome

100
Q

● Due to del 8p24.11-q24.13, involving the TRPSI,
TRPSII, EXTgenes

A

LANGER-GIEDION SYNDROME

101
Q

Clinical manifestations of?
➢ Craniofacial dysmorphism
➢ Exostosis
➢ Skeletal abnormalities
➢ Mild to severe mental deficiency
➢ Fine scalp hair
➢ Large and prominent ears
➢ Missing teeth
➢ Trichorhinophalangeal syndrome

A

langer-giedon syndrome

102
Q

● Wilm’s tumor, Aniridia, Genitourinary defects, and
mental Retardation (75%)
● Deletion on the short arm of chromosome 11
(11p13.3) involving WT1 gene, AN2 gene causing
contiguous gene syndrome

A

WAGR SYNDROME

103
Q

Deletion of one copy of PAX6 gene → aniridia &
MR; brain-derived neurotrophic factor (BDNF gene)
→ hyperphagia and obesity

A

wagr syndrome

104
Q

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

A

aniridia

105
Q

● del 13q14.1-q14.2, involving Rb gene
● May also occur by hypermethylation of the
promoter sequence

A

RETINOBLASTOMA

106
Q

● Patients have risk of developing tumors of the
retinoblast cells of the eye
● PHL > 1:18000
● 90% diagnosed before 5 y/o
→ Diagnosis: Karyotyping or Southern Blot

A

retinoblastoma

107
Q

● Best known microdeletion syndromes
● Share the same interstitial deletion of the proximal
long arm of chromosome 15 del(1)(q11.2-q13),

A

PRADER-WILLI AND ANGELMAN SYNDROME

108
Q

● Broad Thum-Hallux syndrome, AD, mostly
acquired
● del 16p13.3, CREBBP gene, regulates cell growth
and division for normal fetal development: EP300
gene, small % of cases

A

RUBINSTEIN-TAYBI SYNDROME

109
Q

Clinical manifestations of ??
➢ Beaked nose
➢ Prominent columella
➢ Hypoplastic maxilla
➢ Down slanted palpebral fissures
➢ Broad thumbs
➢ First toes
➢ Hirsutism
➢ Short stature
➢ Mental retardation
➢ Speech delay

A

RUBINSTEIN-TAYBI SYNDROME

110
Q

● del 17p11.1, RAI1 gene
● Not inherited
● Deleted during formation of reproductive cells

A

SMITH-MAGENIS SYNDROME

111
Q

Clinical manifestations of?
➢ Brachycephaly
➢ Broad nasal bridge
➢ Prominent jaw
➢ Short broad hands
➢ Hyperactivity
➢ Mental retardation
➢ Delayed speech
➢ Self-destructive behavior

A

smith-magenis syndrome

112
Q

● Two stereotypic behaviors: spasmodic upper-body
squeeze or “self-hug” and hand licking and page
flicking “lick and flip”, are specific to SMS
→ Diagnosis: Karyotyping and or FISH

A

smith-magenis syndrome

113
Q

● Microdeletion of the distal short arm of
chromosome 17 (17p13.3), involving the LIS1
gene, with the deletion of at least 2 genes

A

MILLER-DIEKER SYNDROME AND LISSENCEPHALY

114
Q

_____________ is associated with profound mental
retardation and seizures

A

Lissencephaly

115
Q

● Possible the most common microdeletion
syndrome, occurring in 1:4000 live births, but not
often recognized
● 3 Mb deletion on the proximal long arm of
chromosome 22 (22q11.2), GCSL gene

A

VELOCARDIOFACIAL SYNDROME

116
Q

Usually diagnosed in newborns because of:
○ feeding difficulties due to palatal
abnormalities (cleft palate)
○ cardiac defects (75%)
○ characteristics with facial dysmorphisms
with prominent nose and retrognathia

A

velocardiofacial syndrome

117
Q

● del22q11.2, 10p, 1q, 6q involving GCSL gene

A

DIGEORGE SYNDROME

118
Q

➢ Cleft palate
➢ Heart defect
➢ Hypoplasia of the thymus with resultant T-cell
immunodeficiency
➢ Parathyroid hypoplasia giving rise to severe
hypocalcemia, and seizures

are Clinical manifestations of

A

digeorge syndrome

119
Q

● del Xp22.32, involving the STS gene

A

ICHTHYOSIS

120
Q

Clinical manifestations of?
➢ Scaly skin
➢ Short stature
➢ Hypogonadism
➢ Mental retardation

A

itchthyosis

121
Q

● del Xp22.3, involving the KAL1 gene
Clinical manifestations:
➢ Hypogonadism
➢ Inability to smell

A

kallman syndrome

122
Q

● Mutation in single gene with large effects

A

MENDELIAN DISORDERS

123
Q

expressed in mathematical
terms

A

penetrance

124
Q

If a trait is seen in all individuals carrying
the mutant gene but is expressed
differently among individuals, the
phenomenon is called ?

A

variable expressivity

125
Q

_____________ SYNDROME
● 600 mutations, mostly missense
● Fibrillin-I or FBNI gene → Fibrillin I protein
● FBNI on 15q21.1; FBN2 on 5q23.31

A

AD - MARFAN

126
Q

Fibrillin I protein
○ Component of microfibrils
○ Provides skeleton on which tropoelastin is
deposited to form elastic fibers (aorta,
ligaments and ciliary zonules)

what syndrome

A

ad- marfan

127
Q

➢ Mitral valve prolapse (MVP) → mitral regurgitation
(MR)
➢ Aneurysm of the ascending aorta → valve
incompetence → left ventricular hypertrophy (LVH)
→ heart failure (HF)

are manifestations of what syndrome?

A

ad-marfan

128
Q

● Defect in synthesis of fibrillar collagen
● Encompasses the 3 patterns of transmutants:
○ May be transmitted through autosomal
recessive
○ As a sex-linked disorder
● Group of clinically and genetically heterogeneous
disorders

A

AD (AR, X-LINKED) - EHLERS-DANLOS SYNDROME (EDS)

129
Q

________ may be caused by mutations involving
structural proteins or enzymes

A

EDS

130
Q

Common manifestations 0f ________________ involve the:
➢ Skin (hyperextensibility)
➢ Ligaments
➢ Joints (hypermobility)

A

AD (AR, X-LINKED) - EHLERS-DANLOS SYNDROME (EDS)

131
Q

● 1:2,500 live births, carrier rate of 1:20
● Most common lethal genetic diseases affecting
Caucasians CFTR gene, 7q31.2

A

AR - CYSTIC FIBROSIS

132
Q

Disorder of ion transport in epithelial cells of
exocrine glands and lining epithelial cell of the
respiratory, GI and reproductive tracts

A

ar-cystic fibrosis

133
Q

● Hereditary deficiency of one of the enzymes
involved in glycogen synthesis or degradation.
● Enzymatic defects dictate the organ of involvement
(distribution)

A

AR - GLYCOGENOSIS

134
Q

________ Forms
➔ Von Gierke/Type I
◆ Glucose-6-phosphate deficiency
➔ Liver phosphorylase and Debranching enzymes
➔ Hepatomegaly and hypoglycemia

A

Hepatic

135
Q

________ Forms
➔ McArdle disease/Type V
◆ Muscle phosphorylase deficiency
➔ Type VII
◆ Muscle phosphofructokinase deficiency
➔ Failure of ATP production → muscle cramps and
lactate level fail to rise

A

Myopathic

136
Q

● Deletion, Xp21
● May result from frameshift mutation, point mutation
● 2/3 familial, 1/3 de novo

A

SLD - DUCHENNE MUSCULAR DYSTROPHY

137
Q

● Females are carriers, asymptomatic, increased
creatine kinase
● Males manifest at 5 y/o, wheelchair-dependent at
10-12

A

SLD - DUCHENNE MUSCULAR DYSTROPHY

138
Q

● Normal at birth
● Delayed walking due to muscle weakness
● Pelvic girdle muscles are the first to weaken
● Pseudohypertrophy of leg muscles

A

SLD - DUCHENNE MUSCULAR DYSTROPHY

139
Q

● Pseudohypertrophy of leg muscles
○ Increase fiber size then replacement by
connective tissue, fat
● Heart involvement → failure and arrhythmia →
death

A

SLD- DUCHENNE MUSCULAR DYSTROPHY

140
Q

● Diminished dystrophin
● Mutation causes synthesis of abnormal, smaller
protein

A

BECKER MUSCULAR DYSTROPHY

141
Q

● Onset during late childhood or adolescence (later
than Duchenne)
● Heart disease
● Normal lifespan

A

BECKER MUSCULAR DYSTROPHY

142
Q

● Second leading cause of mental retardation
and is the primary cause of inherited mental
retardation
● 1:1550 for affected males and 1:8000 for affected
females

A

SLD - FRAGILE X SYNDROME

143
Q

● Break or gap in the structure of the X
chromosome that can be detected cytogenetically

A

SLD - FRAGILE X SYNDROME

144
Q

In SLD-FRAGILE X SYNDROME, A normal transmitting male and carrier female have _________ repeats (premutations) whereas affected individuals, 200 – 4000 repeats (full
mutation)

A

55 – 200

145
Q

Clinical manifestations of WHAT SYNDROME in affected males:
➢ Mentally retardation
➢ Long face with macrognathia
➢ Large everted ears
➢ Macroorchidism (90% of postpubertal males)

A

SLD-FRAGILE X SYNDROME

146
Q

Clinical features of fragile X syndrome worsen with
each generation (anticipation).

T OR F

A

TRUE! Padagdag ng padagdag ang clinical
manifestations per generation

cytogenetics (3 decks)

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