WorksheetsGENOMICS ch.6+7
Total questions: 25
Worksheet time: 13mins
disorders Associated with Genomic Imprinting
Prader Willi Syndrome (PWS)
Turners syndrome
Klinefelter syndrome
Autism
multiple rare copy
number variants (CNVs) results in?
Klinefelter syndrome
Turners syndrome
angelman syndrome
Neurodevelopmental disorders and Intellectual disability
In Y chrmomosome where is the sex determining region located?
DDX genes
SRY genes
DAZ genes
USP genes
Klinefelter syndrome is s result of?
inheriting 2 extra X chromosomes (48)
inherting 2 extra Y chromosomes (48)
inheriting an extra X chromosome (47)
inheriting an extra Y chromosome (47)
In Klinefelter syndrome there is?
translocation
trisomy 21
Y chromosome inactivation
X chromosome inactivation
disorders associated with Genomic Imprinting include?
Robertsonian translocation
Down syndrome
angelmans syndrome
ADHD
Chromosomal deletions accounts for ___% of Prader Willi Syndrome(paternal) and Angelmans syndrome(maternal)?
10
70
30
99
females born with Turners syndrome inherit?
a single X chromosome (45)
2 X chromosomes (46)
3 X chromosomes (47)
2 Y chromosomes (46)
Many of the features of Angelman syndromeresult from the loss of function of _____gene?
SRY
UBE3A
DAZ
Prader Willi Syndrome results from partial loss of function (deletion) in chromosome___?
21
12
15
13
genomic disorders from deletions chromosome 22 can result in?
Down syndrome
Turners syndrome
velocardiofacial Syn.
Klinefelter syndrome
Microdeletion and Duplication Syndromes can involve?
developmental delay
intellectual disability
dysmorphic birth defects
all of the above
Microdeletion and Duplication Syndrome can be caused by?
abnormal Sex chromosomes
breakpoints located at low-copy repeated sequences
abnormal Y chromosomes
trisomy or disomy
Robertsonian translocations occur in Acrocentric chromosomes include?
13,14
14,15
21,22
all of the above
Trisomy results from ?
nondisjunction of the chromosome 21
adnormal segregation
genomic inprinting errors
both 1 and 2
Nondisjunction during maternal meiosis I is common meiotic error resulting in Down syndrome
true
false
cant tell
what are known risk factors for having a child with DS?
ethnicity
diet
enviormental toxins
age >35
Loss-of-function mutation: recessive inheritance, mutant allele generally reduces or eliminates the function of the
gene product
false
true
unknown
Genetic Anticipation is aassociated with ?
trinucleotide repeat instability
dinucleotide repeat instability
genetic silencing
autosomal trisomy
the severity of phenotype increases and age of onset decreases as a gentic disorders is called?
heteropalsy
penetrance
anticipation
hemizygous
Huntingsons disease is caused by
CAG repeats
recessive inheritance
dominant inheritance
mendelian inheritance
An example of X-linked recessive inheritance
ADHD
color blindness
hemophilia
both 2 and 3
An affected individual with a genetic is first brought to the geneticist is called?
first degree relatives
second degree relatives
proband
compound heterozygote
Consagguineous mendelian inheritance can be
loss of function mutation (recessive inheritance)
trisomy
silencing
segregation
ABO blood group is an example of
codominance
mendelian inheritance
mitochondrial inheritance
mutation
