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Ch 18: Genetics > Frequently tested Genetic Disorders > Flashcards

Frequently tested Genetic Disorders Flashcards

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1
Q

What are the clinical features of Turner Syndrome? How do you treat it?

A

Clinical features:

  1. Short stature
  2. Broad webbed neck
  3. Left-sided congenital heart defects (BAV, corac)
  4. Lymphedema of the hands and feet
  5. Wide-spaced nipples
  6. Horseshoe kidney
  7. Hypothyroidism

IQ normal, but may have cognitive impairment (delayed speech, learning disabilities, and visual spatial problems)

Treatment: Growth hormone

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2
Q

What is Turner Syndrome?

A

Primary Gonadal Dysgenesis

XO- either full or partial X chromosome deletion

*ONLY diagnosed in females

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3
Q

How do you diagnose Turner Syndrome?

A

Karyotype

If initial chromosome analysis is normal then FISH study to look for mosaicism.

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4
Q

What are the clinical features of Noonan syndrome?

A

Clinical features

  1. Pectus excavatum
  2. Webbed neck
  3. Low set ears
  4. Pulmonic Stenosis/ HCM
  5. Cryptorchidism
  • Developmental delay or MR of variable degree
  • Karotype is NORMAL (how to distinguish from Turner)
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5
Q

What is Marfan’s Syndrome?

A

Autosomal Dominant

Major Criteria (need >2)
1. Progressive dilation or dissection of ascending aorta
2. Lumbosacral dural ectasia
3. Ectopia lentis *upward lens)
4. 4 skeletal manifestations
-tall stature
-high arched palate-
dental crowding
-hyperextensible joints, 
-pectus abnormalities (ASYMMETRIC pectus carinatum!), arachnodaactyly
-disproportionately long extremities compared to the trunk.
5. Family or genetic history

MVP NOT one of the major critera

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6
Q

What is Klinefelter syndrome?

A 
47 XXY (80%0
The other 20% are variable XXYY, XXXY, XXXYY, etc)
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7
Q

What are the clinical features of Klinefelter syndrome? And how do you treat it?

A

Clinical features:

  1. Tall and infertile
  2. Small testes (Klein = small in german)
  3. NORMAL intelligence, may have delayed speech and emotional development
  4. Gynecomastia- have increased risk for breast cancer and mediastinal tumors

Treatment: testosterone

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8
Q

What is Prader-Willi Syndrome? How do you test for it?

A

Continguous gene condition, 15q11-13 deletion from DAD.

Clinical Features:

  1. Neonatal hypotonia
  2. FTT as infant then HUGE appetite around 2-3 yo
  3. Obesity
  4. Intellectual disability
  5. Small testes

Diagnosis: methylation test

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9
Q

What is Angelman Syndrome? How do you test for it?

A

Continguous gene condition, 15q11-13 deletion from MOM.

Clinical Features: (diagnosed at 3-7 yo), “happy puppet”

  1. Distinct facial appearance
  2. Intellectual disability
  3. Early and profound speech impairment
  4. Ataxia
  5. Behavioral anomalies- frequent laughter, easy
  6. Excitability, short attention span
  7. Acquired microcephaly
  8. Seizures
  9. Spasticity
  10. Feed problems

Diagnosis: methylation test

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10
Q

What is Beckwith Wiedemann Syndrome and its clinical features? What 3 things are at high risk for developing with it and how do you diagnosis it?

A

Overgrowth syndrome, alteration in Ch 11p15.5

Clinical Features:

  1. Hypospadius
  2. Omphalocele
  3. Macroglossia
  4. Macrosomia
  5. Hypoglycemia (islet cell hyperplasia)
  6. Hemihypertrophy
  7. Renal anomalies
  • HIGH RISK for
    1. Rhabdomyosarcome
    2. Wilm’s tumor (nephroblastoma)
    3. Neuroblastoma

Need AFP measurements q6weeks and abdominal U/S q3 months until 8 yo.

Diagnosis: methylation test

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11
Q

What are the clinical features of Williams Syndrome?

A

Clinical Features: “cocktail party personality”

  1. Elfin Facies
  2. Wide spaced teeth
  3. Upturned nose
  4. Mild intellectual disability
  5. Very friendly
  6. Hypercalcemia
  7. Supravalvular aortic stenosis
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12
Q

What are the clinical features of DiGeorge Syndrome (22q11 Deletion Syndrome)? How do you diagnosis it?

A 
Clinical Features:
Conotruncal abnormalities
Abnormal facies
Thymic aplasia (immunodeficiency)
Cleft palate
Hypoparathyroidism 
22q11 deletion

Diagnosis: Chromosomal Microarray

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13
Q

What are the clinical features of CHARGE syndrome?

A

Autosomal Dominant, CHD 7 gene

Clinical Features:
Coloboma/cognitive defects
Heart defects
A (choanal atresia/stenosis)
Retarded growth and development
GU abnormalities (genital hypoplasia)
Ear anomalies (hearing loss)
  • Can cause blindness AND deafness
  • Intelligence is below normal
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14
Q

What are the clinical features Rubinstein-Taybi (Thumby) Syndrome?

A

Clinical Features:

  1. Broad thumb
  2. Cryptorchidism
  • Differentiate from Pfeiffer syndrome (also broad thumbs with short toes, but EYES prominent and WIDELY spaced)
  • Differentiate from Crouzon syndrome (EYES prominent and WIDELY spaced)
  • If have both features probs Pfeiffer syndrome
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15
Q

What is Alagille Syndrome are its clinical features?

A

Autosomal Dominant inheritance pattern with variable penetrance, JAG1 gene mutation

Clinical Features:

  1. Cardiac defects (peripheral pulmonic stenosis)
  2. Short stature
  3. Vertebral anomalies
  4. Cholestatic liver disease 2/2 of a paucity of bile ducts. 5. Prominent forehead
  5. Pointed chin
  6. Hypertelorism
  7. Deep-set eyes
  8. Posterior embryotoxon, an opaque ring around the cornea, due to thickening of the ring of Schwalbe
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16
Q

What is Fragile X Syndrome and its clinical features? How do you diagnosis it?

A

X-linked recessive, FMR-1 gene, triplet CGG explansion

Occurs in MALES. Positive family hx of uncles

Clinical Features:

  1. Long narrow face
  2. Prominent forehead
  3. Protruding ears
  4. High arched palate
  5. Strabismus
  6. Hyperflexible joints
  7. Macroorchidism
  8. Mild intellectual disability

Diagnosis: DNA testing (FMR 1 gene). CANNOT see this on chromosomal microarray.

17
Q

What is Rett Syndrome and its clinical features?

A

Clinical features:

  1. Normal girl at 1-2 yo that starts to have developmental stagnation (6-18 mo) then regression (up to 4 yo)
  2. Autistic-like behavior
  3. Wringing hands
  4. Decelerating head growth
18
Q

What is Fetal Alcohol Syndrome and its clinical features? How do you diagnosis it?

A

Clinical features: (with or without confirmation of maternal EtoH use)
Facies
Abnormal brain
Small

  1. Flat philtrum
  2. Thin Vermilion border of upper lip
  3. Midface hypoplasia
  4. Short palpebral fissures
19
Q

What clinical features and associates does tobacco exposure cause?

A

Clinical features:

  1. Low birth weight
  2. Higher miscarriage rates
  3. Placental abruption
  4. Placenta previa
  5. IUGR
  6. Prematurity
  • Associated with Asthma, Wheezing, AOM, Sinopulmonary ailments
  • Increases the risk of SIDS
  • Can have abnormal neurobehavior: deficits in mental development, language deficits, ADHD, and lower IQ.
20
Q

What 3 anti-convulsants are teratogenic and what do they cause?

A

*All can cause cardiac defects, cleft lip, hypospadias, cryptorchidism, and clubfoot deformity

  1. Valproic Acid
    - Neural tube defects
    - Facial deformities
  2. Phenytoin
    - Finger stiffness
    - Severe nail hypoplasia
    - Cardiac abnormalities
    - Opthalmological anomalies
    - Club foot
  3. Carbamazepine
    - Neural tube defects
21
Q

What does VACTER-L stand for? What are some other associations with it?

A 
Vertebral anomalies
Anal atresia
Cardiac defects
TE fistula
Renal abnormalities
Limb abnormalities
  • Need 3 to diagnosis it
  • Associated with a SINGLE umbilical artery and growth deficiency

*Intelligence is NORMAL

22
Q

What is Craniosynostosis and what is it associated with?

A

Deformation of the skull due to premature fusion of 1 or more sutures

Can be corrected, but must identify before 5 mo

*Associated with hydrocephalus and increased intracranial pressure

23
Q

What head shape does positional plagiocephaly give you?

A

Parallelogram head shape (ipsilateral frontal bossing)

24
Q

What head shape does unilateral lamdoid synostosis give you?

A

Trapezoidal head shape (contralateral frontal bossing)

25
Q

What head shape does saggital synostosis give you?

A

Dolichocephaly/Sacphocephaly (long, skinng egg-shapped head)

26
Q

What head shape does bilateral coronal synostosis give you?

A

Brachycephaly (short wide head)

27
Q

What head shape does metopic synostosis give you?

A

Trigonocephaly (triangle head)

28
Q

What head shape does multiple suture synostosis give you?

A

Cloverleaf skull

29
Q

What clinical features are associated with Pierre Robin Sequence?

A

Clinical features:

  1. Small chins, so tongue sticks out (glossoptosis)
    - Leads to upper airway obstruction and cor pulmonale
  2. Cleft palate
  3. Micrognathia
  4. Posterior positioning of of their tongues
  5. Syndactyly
  6. Clinodactyly
  7. Hip and knee anomalies
  8. Kyphosis/Scoliosis
  9. Developmental delay
30
Q

What is Potter syndrome?

A

Caused by RENAL AGENESIS. Clinicla features are formed by oligohydraminos

  1. Facies, “pugilistic”
  2. Hypoplastic lungs
  3. Limb malformations like club feet
  4. Renal agenesis
  5. Glove-like excess skin on the hands
  6. Fetal membranes are covered by yellowish nodules (amnion nodosum)

*Babies die from pulmonary complications

31
Q

What clinical features are associated with Russell Silver Syndrome?

A

Clinical Features:

  1. Triangle face (small chin)
  2. Growth retardation
  3. VERY small
32
Q

What clinical features are associated with Prune Belly Syndrome?

A

First you get bladder wall obstruction–>then oligohydramnios–> pulmonary hypoplasia, testes undescended

Clinical Features:
1. Lack of abdominal muscle development

33
Q

What clinical features are associated with Treacher Collins?

A

Autosomal Dominant

Clinical Features:

  1. Conduction hearing loss
  2. Small jaw
  3. Ear abnormalities
  4. Lower eyelid abnormalities
  5. NORMAL intelligence

*multiple family members with hearing aids

34
Q

What clinical features are associated with Achondroplasia?

A

Autosomal Dominant- associated with advanced paternal age

Clinical features:

  1. Large heads
  2. Very short extremities
  3. Rhizomelic shortening (prox bones very short)
  4. “Trident hands”
  5. Macrocephaly
  6. Frontal bossing
  7. Bowed legs (genu varum)
  8. Lumbar lordosis
  9. SMALL FORAMEN MAGNA- nerve root compression
  10. Sleep apnea
  11. NORMAL intelligence.

*At risk for SUDDEN DEATH in infancy and early childhood due to cervicomedullary junction compression

Ch 18: Genetics (6 decks)

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