Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MTM Exam 2 > Genetic Disorder Pathology > Flashcards

Genetic Disorder Pathology Flashcards

1
Q

What are common clinical presentations for down syndrome?

A
  • Hypotonia (“floppy babies”; poor muscle tone)
  • Excess nuchal skin
  • Epicanthic Folds
  • Protruding tongue
  • Small ears
  • Upward sloping palpebral fissures
  • Single palmar crease
  • Atrial and Ventricular Septal Defects
  • Anal or Duodenal Atresia
  • Short stature
  • Strabismus (eyes do not line up)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are some common health problems that develop from Down Syndrome?

A
  • Congenital Heart Disease (40%)
  • Intellectual Disability
  • Alzheimer Disease (APP gene on C21)
  • Decreased life expectancy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are comon clinical presentations for Trisomy 13 (Patau Syndrome)?

A
  • Severe cleft lip/palate
  • Polydactyly
  • Mean survival of 7 days
  • Microcephaly (small than average head)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are common clinical presentations for Trisomy 18 (Edward’s Syndrome)?

A
  • Microcephaly
  • CNS & CVS Malformations
  • Prominent Occiput (Back of Head)
  • Micrognathia (lower jaw smaller than normal)
  • Overlapping fingers
  • Rocker-bottom feet (sole flexes convexly)
  • Mean survival of 14.5 days
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are common clinical presentations for Turner Syndrome?

A
  • Short stature
  • Delayed pubertal development
  • Amenorrhea
  • Gonadal dysgenesis ~ streak ovaries
  • Webbing of neck
  • Broad chest and widely spaced nipples
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Turner Syndrome mechanism?

A

45X or 45 XO

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What percentage of Turner Syndrome birth cases are mosaics?

A

75%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are common clinical presentations for Klinefelter syndrome?

A
  • Feminization of secondary sex characteristics (hair and breasts)
  • Hypogonadism (sex glands produce little, if any hormones)
  • Disproportionate long limbs
  • Tall and thin stature
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Klinefelter Syndrome mechanism?

A

47 XXY

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What do other trisomies of sex chromosomes have in common?

A

Tall statures and mental deficits

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What happens to individuals when they have high numbers of X chromosomes?

A

As the X chromosomes increase, the mental impairment does as well.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

How are extra X chromosomes inactivated?

A

Barr bodies

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Although individuals may not be affected by balanced rearrangements of chromosomes, what might happen later?

A

Their children might be at risk of developing an unbalanced abnormality.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What do multiple congenital anomalies in the absence of an obvious diagnosis suggest?

A

A chromosomal aberration or abnormality.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are the five acrocentric chromosomes in humans?

A

13, 14, 15, 21, and 22

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is the name of a balanced recombination of the p-arms of two acrocentric chromosomes?

A

Robertsonian Translocation

17
Q

What is the most common down syndrome translocation and how is this inherited?

A

14q21q

  • 2/3 are de novo
  • 1/3 inherited from a balanced carrier
18
Q

What type of translocation carrier has children that are at risk for BOTH down syndrome and patau syndrome?

A

13q21q

19
Q

100% of live-born offspring of this type of balanced carrier will have down syndrome?

A

21q21q

20
Q

What are the two possible gametes for 21q21q?

A
  1. Nullisomic C21 (no copies - lethal)

2. Disomic C21 (2 copies - Down Syndrome)

21
Q

What are some common clinical presentations for Wolf-Hirschhorn Syndrome?

A
  • Characteristic facies ~ broad, flat nasal bridge, high forehead (“Greek Warrior Forehead”)
  • Severe mental deficiency
  • Hypotonia
  • Microcephaly
22
Q

What is the mechanism for Wolf-Hirschhorn Syndrome?

A

It is an autosomal deletion disorder (4p-) of the 4p16 critical region.

23
Q

What are some common clinical presentations for Cri du Chat Syndrome?

A
  • Cat-like cry (high pitched cry)
  • Microcephaly
  • Downward sloping palpebral fissures (down syndrome has upward sloping)
  • Hypertelorism (increased distance between two body parts)
24
Q

What is the mechanism for Cri du Chat syndrome?

A

It is an autosomal deletion disorder (5p-). Usually ends in a loss of 10-20% of distal p arm in most cases.

25
Q

What are some common clinical presentations for cystic fibrosis?

A
  • Obstructive lung disease
  • Lung infections
  • Malabsorption (pancreatic insufficiency)
  • Salty sweat
  • Male infertility
  • Meconium ileus (obstruction of SI)
26
Q

Explain the Sickle Cell Anemia mechanism.

A

Sickle Cell is an Autosomal Recessive Disease that is caused by an A to T transversion in the HBB coding ß-globin (missense mutation). Due to this, the amino acid glutamic acid (E) is changed to valine (V).

27
Q

What are some common clinical presentations for sickle cell anemia?

A
  • high recticulocytes
  • splenomegaly
  • painful swelling of hands and feet
  • repeated infections
28
Q

A single gene affects multiple, seemingly unrelated, phenotypic traits.

A

Pleiotropy

29
Q

Sickle Cell Mutations alter a recognition sequence meant for restriction endonuclease. What is this sequence name?

A

MST II

30
Q

Hemophilia A and B have mutations in what blood clotting factors?

A

A - Factor VIII (F8 gene)

B - Factor IX (F9 gene)

31
Q

40% of severe Hemophilia A cases are caused by what mechanism?

A

A chromosomal inversion that developed from unequal crossing over between repeats. The inversion changes the distances between restriction sites and changes the sizes of fragments.

32
Q

What autosomal dominant disorder is considered the most common microdeletion syndrome?

A

DiGeorge Syndrome or Deletion Syndrome or Velocardiofacial Syndrome

33
Q

What is the mechanism for Deletion Syndrome?

A

22q11 Microdeletion

34
Q

What are some common clinical presentations for 22q11 Deletion Syndrome?.

A

CATCH-22:

C - Cardiac Defects
A - Abnormal facies
T - Thymic Hypoplasia
C - Cleft palate
H - Hypocalcemia from parathyroid aplasia
22: Chromosome 22

MTM Exam 2 (5 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions