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DT4- Exam 3 > Hummel- Clinical Genetics x 2- Leah > Flashcards

Hummel- Clinical Genetics x 2- Leah Flashcards

1
Q

What makes an anomaly “congenital”?
How common are congenital anomalies?
#1 congenital malformation in the US?
Why is the incidence of NTD decreasing in the US?

A
  • congenital defects: present (not necessarily detected) at birth
  • 3% of newborns, up to 7% diagnosed by kindergarten
  • # 1 US malformation: club foot
  • NTD lowering due to supplementation of all grain products with folic acid
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2
Q

Period during which fetus is most susceptible to anomaly formation?
What percentage of anomalies are actually due to some teratogen?

A

-Embryonic period (weeks 3-8)
-only 5% due to known teratogens!
(remaining = 25% mendelian, 30% chromosomal, 40% unkown)

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3
Q

What is the term for “the study of abnormal form”?

What three fields of science are involved?

A
  • Dysmorphology

- genetics + embryo + clinical medicine

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4
Q

What is the difference between major and minor anomalies? How common are each?
_____ minor anomalies should raise suspicion for a major anomaly.

A
  • major (effects health, intervention required; 3-5%)
  • minor (intervention unecessary; less than 4%)
  • 3 or more
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5
Q

What are five kinds of “abnormal” births?

A
  • single defect
  • syndrome
  • complex
  • sequence
  • association
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6
Q

Why is the incidence of cleft lip/ palate high in WV?

A

smoking

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7
Q

Single palmar crease, brushfield spots, epicanthal folds, and clinodactylyl are all _____ that may be assc with _____.

A
  • minor anomalies

- may or may not be assc with DOWNS!

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8
Q

Flat nasal bridge, hydrocele, and syndactyly are all examples of ____.

A 
normal variants 
(fall to the far end of the spectrum of normal, can serve as clues to other underlying malformation)
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9
Q

What is it called when two toes look like they are stuck together?
What is it called when a digit (usually the pinky) is curved inwards?

A
  • syndactyly (toes)

- clinodactyly (jacked pinky)

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10
Q

What are the three types of problems in morphogenesis?

Which can often be easily reversed?

A
  • malformation
  • deformation (easily reversed, i.e. clubfoot)
  • disruption
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11
Q

Define malformation.
Give two examples.
Four possible etiologies?

A
  • intrinsically abnormal development
  • cleft lip; polydactyly
  • genetic, chromosomal, teratogenic, unknown
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12
Q

Define deformation.

Five two examples

A
  • mechanical compression leading to malformation

- club foot, plagiocephaly (abnormally curved head from laying on it)

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13
Q

Define disruption.

Give two examples.

A
  • breakdown of normal development; often caused by ischemia

- amniotic band amputation (missing finger, toes, hand etc), porencephaly (giant stroked out hole in head)

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14
Q

Compare and contrast encephalocele and anencephaly:

these slides are not in ppt, but she had slides on this in lecture…

A

-anencephaly (no skull; jacked brain; mostly brain stem left)
-encephalocele (small skull defect, part of brain and meninges protrude)
^^ AFP in anencephaly due to leaking fetal fluids.
not ^^ in encephalocele beause membrane = no leaking.

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15
Q

Least severe spina bifida?
moderate?
most severe?

Which is usually NOT due to low folic acid?

(these slides are not in ppt, but she had slides on this in lecture…)

A
  • least: spina bifida occulta (lower spine, not typically caused by low folate, see tuft of hair)
  • moderate: myelomeningocele (spinal cord + meninges)
  • rachischisis (missing part of spinal cord –> paralysis below that level, often no control of bowel and bladder)
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16
Q

What occurs as a result of MTHFR gene loss?

A
  • ^^ homocysteine (^^ risk clotting, CVD)

- low folic acid (^^ risk NTD if mom is preggos)

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17
Q

Give an example of each of these mutation types:

  • lack of development
  • hypoplasia
  • incomplete closure
  • incomplete separation
  • incomplete septation
  • incomplete migration
  • incomplete rotation
  • incomplete resolution of early form
  • persistence of early location
A
  • lack of development: renal agenesis
  • hypoplasia: microcephaly
  • incomplete closure: cleft palate
  • incomplete separation: syndactyly
  • incomplete septation: VSD
  • incomplete migration: bladder extrophy
  • incomplete rotation: malrotation of gut
  • incomplete resolution of early form: Meckels
  • persistence of early location: low set ears
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18
Q

What is cloana atresia?
Example of?
How common?
What does it cause at birth?

A
  • narrowing or blockage of the nasal airway by tissue
  • incomplete resolution of early form
  • most common nasal abnormality in newborn infants
  • causes respiratory distress
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19
Q

What is an example of redundant morphogenesis?

Aberrant morphogenesis?

A

redundant: polydactyly
aberrant: mediastinal thyroid

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20
Q

What may cause deformations in utero?

A
  • uterine pathology i.e. big fibroids –> breech baby –> hip dislocation
  • multiple fetuses –> crowding
  • uterine malformation i.e. bicornate uterus –> varus legs
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21
Q

What is plagiocephaly again?
Why is the incidence ^^?
How is it corrected?

A
  • assymetric head; example of DEFORMATION
  • caused by “back to sleep” campaign
  • babies sleep on head a lot –> head gets funny shape
  • correct with helmet while babies still have malleable skulls
22
Q

How is a club foot repaired?

What is it an example of?

A
  • Casting

- deformation

23
Q

Three etiologies of abnormalities caused by “disruption”

A
  • vascular
  • compressive
  • tearing
24
Q

Occlusion of the omphalomesenteric artery causes _____.
What lab abnormality is observed?
What is this an example of?

A
  • gastrochisis
  • disruption
  • ^^AFP (as opposed to omphalocele, which has a closed membrane = no leakage of fetal fluids)
25
Q

Drug that commonly causes vascular disruption –> fetal anomalies?

A

cocaine

26
Q

A vascular accident leading to disruption in the brain is called?
-The presents similar to what other disease?

A

-porencephaly
-presents a lot like cerebral palsy
(not fatal)

27
Q

Describe poland anomaly:

What is it an example of?

A

-example of disruption
-subclavian artery disruption –> no pectoral muscle
–> smaller boob on that side + ipsi limb defect
(MC on RT side)

28
Q

Describe a “sequence” in terms of multiple anomalies:

A

-single abnormality –> CAUSES OTHERS

Classic: POTTERS

29
Q

Describe the holoprosencephaly “sequence”:

A
  • holoprosencephaly (one brain lobe, no R/L division)

- -> result = close eyeballs or possible cyclopia, midline cleft lip and palate

30
Q

Sonic hedgehog gene is required for brain development. What activates this gene and what implication does this have on daily practice?

A
  • CHOLESTEROL ACTIVATES SHH.

- If you put a young woman on cholesterol reducing agent, you must also put her on birth control!!!!!

31
Q

Describe the “robin sequence”

A
  1. collagen defect = small chin

causes: abnormal tongue, u shaped cleft palate, airway obstruction

32
Q

What STARTS the POTTER sequence?

What are the other parts of the sequence?

A
  • Triggered by renal agenesis –> olighydramnios –> fetal compression
  • P : pulmonary hypoplasia
  • O: oligohydramnios
  • T: twisted facies
  • T: twisted limbs
  • E: low FAT ears
  • R: renal agenesis
33
Q

A combination of anomalies which occur together more frequently than by chance alone:
what is this?
whats the most commonly tested example?

A
  • association

- VATER

34
Q

What are the components of the CHARGE assc?

A
  • C: coloboma of eye (missing tissue piece)
  • H: heart defects
  • A: atresia of choanne (nasal passage blocked)
  • R: retardation of growth
  • G: genital anomalies
  • E: ear anomalies

She says these have now been linked to “one chromosome…. so I am assuming this is now a “syndrome” but she talked too fast for me to get the point.

35
Q

What are the components of VATER assc?

A

V- vertebral defects
A- anus = imperforate
TE- TE fistula
R- renal defects

36
Q

What are the components of the MURC assc?

A
  • MU: MUllerian duct anomaly
  • R: renal defect
  • C: cervical verebral defects
37
Q

What are: anomalies of several structures that lie in the same body region?

A

-complex

38
Q

What is the “OEIS” complex?

A
  • omphalocele
  • ecstophy of bladder
  • imperforate anus
  • spina defect
39
Q

What are: multiple defects due to a particular chromosomal change?

A

syndrome

40
Q

What are the four components of Cornealia de Lange Syndrome?

Whats the cause?

A
  • short
  • mentally retarded
  • limb
  • characteristic facies (i.e. unibrow)

-NIPBL mutation

41
Q

Retinoic acid:

  • before prescribing what should you do?
  • what defects does retinoic acid cause?
A
  • two preggo tests each a month apart + be sure the patient has two forms of BC (true story, my derm did this.)
  • ear, facial, and CNS abnormalities
42
Q

What was thalidomide prescribed for?

What kind of deformities can it cause?

A
  • morning sickness
  • phocomelia (limb agenesis)
  • midline hemangiomas
43
Q

What do you NEVER EVER tell a patient in genetic counseling?

A

-That they should not have a baby.

44
Q

Three types of histories that should be taken at genetic appt?

A
  1. Family history (include three generations + any miscarriages/ death + consanguinity)
  2. Pregnancy history (timing, illness, weight gain, fetal movement, any testing, drugs/exposures)
  3. Medical history of patient (labor + delivery, milestones, etc)
45
Q

2 Key components of PE at genetics appt?

A
  • Observe/ look for ASSYMETRY.

- Measure anything that can be measured.

46
Q

2 genetic disorders that involve defective “methylation”?

A
  • Prader Willi

- Angelmans

47
Q

Gingival Hyperplasia and corneal clouding are assc with?

A

-Hunters

48
Q

Telephone reciever femurs and inadequate lungs are assc with? Gene involved?

A
  • Thanatophoric Dwarfism

- FGFR3= most common gene involved in all types of dwarfism

49
Q

When should a family or individual be referred for genetic counseling?

A
  • Prior to conception

- A soon as possible for newly diagnosed patients

50
Q

Key component to communication in genetic counseling?

A

-provide family with written report after the session to be sure they can review

DT4- Exam 3 (14 decks)

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