Chromosomal and Genomic Basis of Disease Flashcards

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1
Q

what disease is the most common genetic cause of moderate intellectual disability

A

down syndrome

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2
Q

how many cases of down syndrome are there

A

1/850

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3
Q

what are the signs/symptoms of down syndrome

A

hypotonia, dysmorphic facial features, short in hands, neck, hands, and simian crease

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4
Q

what accounts for <95% of DS

A

47 chromosome due to meiotic nondisjunction of chromosome 21 pair

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5
Q

nondisjunction during maternal ________ is common meiotic error resulting in DS

A

meiosis I

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6
Q

what does nondisjunction event lead to

A

leads to production of abnormal gamete with two copies or no copies of chromosome in meiosis I

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7
Q

what does trisomy result from

A

results from meiotic nondisjunction of chromosome 21 pair

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8
Q

what is contiguous gene syndrome

A

extra or deficient copies of multiple contiguous genes within deleted or duplicated region due to genomic regions predispose to rearrangements

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9
Q

what causes Turner’s syndrome

A

missing an X chromosome on 23rd pair

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10
Q

what is klinefelter syndrome

A

males who have 47 chromosomes with 2 x chromosomes and y chromosome

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11
Q

how many chromosomes do women with turners syndrome have

A

45 chromosomes with 1 x chromosome

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12
Q

what are signs/symptoms of children with prader willi syndrome

A

obestity, hypogonadism, small hands & feet, short stature and development delay

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13
Q

signs/symptoms of children with Angelman syndrome

A

wide stance and position of arms

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14
Q

what roles does Y chromosome have

A

role in sex development

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15
Q

the X and Y chromosome pair by segments at

A

ends of their short arms

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16
Q

Y chromosome undergoes…

A

recombination with a specific region of the X chromosome

17
Q

X chromosome contains most common

A

cytogenetic abnormalities

18
Q

what disorders are caused by micro-deletion and duplication

A

development delay, intellectual disability, and dysmorphic features

19
Q

what is mechanism for microdeletion/duplication or continguous gene syndrome

A

breakpoints located at low-copy repeated sequences (segmental duplications) in genome

20
Q

what are genomic disorders from del/dup in 22q11

A

intellectual disability, heart defects, absent pulmonary valve

21
Q

what is x chromosome inactivation

A

one of the two x chromosomes are silenced epigenically (x linked disorders)

22
Q

example of x chromosome disorder

A

klinefelter syndrom : 1/600, increase risk of breast cancer, and decreased muscle tone and bone density

23
Q

what percentage of genomic imbalance are caused by multiple rare copy number variants

A

12-16%