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M2M exam 2 > clinical vignettes > Flashcards

clinical vignettes Flashcards

1
Q

cause of down syndrome

A
  1. trisomy 21 (95%)
  2. unbalanced translocation between 21 and another afrocentric chrome (3-4%)
  3. mosaic tri 21 (1-2%)
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2
Q

Trisomy 21 is unbalanced translocation between

A

chromosome 21 and another afrocentric chromosome

important to check karyotype of parents

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3
Q

trisomy 21, 95% of patients with

A

down syndrome
parents usually have normal chromosomes
recurrence risk is 1:100

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4
Q

mosaic trisomy is

A

mixture of norma cells and cells containing trisomy 21
1-2% of down syndrome
phenotype tends to be more mild

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5
Q

approach to prenatal counseling in DS

A
  1. caused by error of nondysjunction
  2. increasing risk with increasing maternal age
  3. prenatal screening
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6
Q

DS first trimester screening:

A

detects 82-87%
ultrasound measurement of nuchal fold +B-hCH (human chorionic gonadotropin) + PAPP-A (pregnancy-associated plasma protein A)

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7
Q

DS second semester screeing:

A

-detection rate 80%
-quad screen-hCG (human chorionic gonadotropin), AFP (α-fetoprotein), unconjugated estriol, and inhibin level
– Suspicion of DS based on 1st or second trimester screening can by confirmed by chromosome analysis via amniocentesis or CVS (chorionic villus sampling)

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8
Q

– Detection rate of 1st trimester + second trimester screening =

A

95%

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9
Q

increased risk of trisomy with

A

advanced maternal age

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10
Q

PW Presentation in newborn period

A

hypotonia and

dysmorphic features, undescended testicles.

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11
Q

PW diagnosis made by

A

Diagnosis can be made with FISH or microarray

marker on chromosome 15, SNRPM deletion

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12
Q

PW symptoms:

A

-early failure to thrice and feeding difficulties
-preschool age hyperphagia and weight gain
-ophthalmologic problems
strabismus and nystagmus

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13
Q

PW treatment

A

growth hormone to help control obesity and improve short stature

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14
Q

Deletion on Paternal chromosome 15 results in

A

prader willi

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15
Q

deletion on maternal chrom 15 results in

A

angelman’s syndrome

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16
Q

Prader-Willi Syndrome results when genetic information is missing from ______

A

the paternal allele of 15q11-q13.

This region of chrm 15 is imprinted

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17
Q

PWS can be caused from

A

deletion of paternal allele or

uniparental disomy of the maternal allele

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18
Q

PWS testing:

A

The maternal and paternal alleles are marked by different patterns of methylation. Therefore, methylation testing of this chromosome is one way to diagnose PWS or Angelman syndrome. If a deletion is present, a FISH test or a miccroarray can be done to confirm the diagnosis.

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19
Q

PWS infancy:

A
  1. hypotonic
  2. almond shaped eyes
  3. undescended testicles
  4. severe feeding problems which often necessitate placement of a feeding (Gtube) gastrostomy tube. 5. lighter pigmentation
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20
Q

Toddler/Preschooler:

A
  1. feeding problems completely reverse, and the child will eat anything and everything, without ever feeling sated.
  2. very obese, unless treated with growth hormone.
21
Q

PWS: Common Medical Issues:

A
  1. Eyes: strabismus, nystagmus common
  2. Orthopedics: scoliosis is common
  3. Respiratory: obstructive sleep apnea
  4. Developmentally: mild-moderate cognitive disabilities, behavioral issues
22
Q

Linkage disequilibrium between patients with Autism and polymorphisms in the _________ have been reported. _________ is an important neurotransmitter in the CNS.

A

GABAA –b3 locus on chromosome 15q

γ-aminobutyric acid type-A

23
Q

_________
chromosome anomalies are one of the most frequently reported cytogenetic
abnormalities in patients with autism

A

Maternally derived proximal 15q11-q13

24
Q

15q interstitial duplication

A

A piece of a chromosome can be copied, resulting
in a duplication or partial Trisomy (in this picture,
the duplication is an
interstitial duplication
in the middle of the chromosome

25
Q

Angelman Syndrome etiology:

A

5q deletion in PWS/AS region from maternal allele, detected with FISH, UPD of 15q, or imprinting errors of 15q detected with methylation studies

26
Q

angelman syndrom symptoms

A

mildly dysmorphic facial features, hypotonia in infancy
spasticity in older patients, Intellectual Disability (ID), seizures,
autism

27
Q

Chrom abnormalities in 15 cause:

A
  1. PWS: paternal deletion
  2. Angelman syndrome: maternal deletion
  3. IDIC 15: associated with autism/hypotonia/seizures/ID
  4. Maternally inherited interstitial duplication: associated with autism/hypotonia/seizures/ID
28
Q

Causes of down syndrome

A
  1. Trisomy 21: 95%
  2. Unbalanced Translocation between chromosome 21 and another acrocentric chromosome: 3-4%
  3. Mosaic Tri 21(mixture of normal cells and cells containing Tri 21): 1-2 %
29
Q

3 kinds of trisomy associated with live births

A

13, 18, 21

30
Q

infants with DS

A 
–  Growth parameters normal
–  midfacial hypoplasia 
–  upslanting palpebral fissures
–  small ears
–  large-appearing tongue
–  low muscle tone, 
-- increased joint mobility
–  short fingers, 
--transverse palmar crease*, Vth finger incurving (clinodactyly), increased space between toes 1 and 2
31
Q

DS common medical issues

A
  1. cardiac issues
  2. Gastrointestinal
  3. Ophthalmologic
  4. Ear, Nose, Throat Problems
  5. Endocrine problems
  6. Orthopedic problems
  7. Hematologic issues
  8. developmental
  9. Neurologic
  10. Psychiatric
32
Q

DS Cardiac issues

A

– Seen in approximately 50% of patients with DS
– All types of anomalies may be present, but Atrioventricular Canal is common to DS
– Echocardiogram in the newborn period is recommended

33
Q

DS Gastrointestinal

A 
– 10-15% of infants have structural
anomalies
1. Esophageal atresia 
2. Duodenal atresia
3. Hirschsprung’s
– functional GI issues
1. Feeding problems 
2. constipation
3. GERD
4. Celiac Dz
34
Q

DS Ophthalmologic problems

A
  1. blocked tear ducts
  2. myopia
  3. lazy eye
  4. Nystagmus
  5. Cataracts
35
Q

DS– Ear, Nose and Throat

A
  1. chronic ear infections
  2. Deafness – both sensorineural and conductive – chronic nasal congestion
  3. enlarged tonsils and adenoids
  4. obstructive apnea
36
Q

DS: Endocrine Problems

A
  1. Thyroid dz – most commonly hypothyroidism
  2. Insulin Dependent Diabetes – Alopecia Areata
  3. reduced fertility (but normal puberty)
37
Q

DS: Orthopedic Problems

A
  1. hips
  2. Joint subluxation
  3. atlantoaxial subluxation
38
Q

DS Hematologic problems

A
  1. Myeloproliferative disorder in newborn
  2. increased risk of leukemia 12-20x
  3. iron deficiency anemia
39
Q

DS developmental problems

A

Psychiatric problems
Depression
Early Alzheimer’s
Autism= 1/10

40
Q

Turner syndrome karyotype

A

XO

41
Q

Turner’s syndrom CVS abnormailites

A
  1. bicuspid aortic valve
  2. Coarctation of aorta
  3. systemic hypertension
  4. prolonged QTc syndrome
  5. Partial anomalous pulmonary venous connection
  6. Persistent left SVC
42
Q

Turner’s syndrome eye abnormalities

A
  1. inner canthal folds
  2. ptosis
  3. blue sclera
43
Q

Turner syndrom skeletal abnormalities

A
  1. cubitus valgus
  2. short 4th metacarpal
  3. short stature
44
Q

Turner syndrom neck

A
  1. webbed neck
  2. low hairline
  3. cystic hygroma
45
Q

Turner syndrome learning abnormalities

A
  1. difficult in math
  2. visual spatial skills
  3. low non verbal scores
46
Q

effective health outcome =

A

patients culture +physicians culture

47
Q

Turner’s syndrome: challenges across lifespan

A
  1. infertility
  2. stature
  3. sexual development
  4. concerns regarding health and aging
48
Q

Turner’s syndrome: common pitfalls in disclosure

A
  1. secret keeping
  2. difficulty communicating an infertility diagnosis
  3. perceived negative experiences with physicians

M2M exam 2 (23 decks)

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