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Neontal boards J > Genetics > Flashcards

Genetics Flashcards

1
Q

It is a genetic syndrome characterized by midline defect- microphthalmia, cleft lip and palate, associate with VSD and dextrocardia

A

Patau syndrome- trisomy 13

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2
Q

Routine screen done on 1st TM that combine ultrasound of nuchal translucency and blood test- PAPP-A and B-HCG

A

Combine screening test

  • done at 11-13 wks
  • Detect aneuploidies with false positive rate 5%
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3
Q

newborn presenting with macrosomia, macroglossia, abdominal wall defect, hemi hyperplasia

A

Beckwith-Wiedemann syndrome

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4
Q

Perioperative challenge for children with beckwith-weidemann

A

Intubation/Airway due to macroglossia

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5
Q

Most common cause of trisomy 21

A

Non-disjunction (3 copies of chromosome 21)- 94%

others:
translocation- involve chromosome 14 and 21

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6
Q

Physical Features of T21

A

brachycephaly
flattened occiput
depressed nasal bridge
upslanting palpebral conjunctivae
epicanthal fold large protruding tongue
tranverse palmar crease
sandal gap
hypotonia

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7
Q

Congenital heart anomaly T21

A

endocardial cushion defect
AV canal, VSD, ASD

-Echo prior to d/c

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8
Q

Congenital GI defect T21

A

5-10% obstruction
Duodenal atresia
annular pancreas
Hirschsprung
anal atresia

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9
Q

Hematologic abN T21

A
  1. 50% polycythemia
  2. Leukmoid reaction or transient myeloproliferative d/o
  3. Inc risk 10-18x risk for Acute nonlymphblast leukemia (less 1 y/o), ALL
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10
Q

Common endocrine abN T21

A

hypothyroid (autoimmune thyroiditis)
DM
obesity

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11
Q

Medical issues of older T21

A
  1. Intellectual disability
  2. Seizure/ infantile spasm
  3. Dementia like syndrome
  4. Inc susceptibility to infection
  5. Strabismus/cataract
  6. Obstructive apnea
  7. Hearing loss
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12
Q

Outcome of T18

A

95% spontaneous abortion

Reocurrence rate 1%

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13
Q

Features T18

A
  1. dolichocephaly with prominent occiput
  2. micrognathia
  3. short palpebral fissures
  4. low set ears
  5. rocker bottom feet
  6. Over lapping 2nd & 5th digit over 3rd & 4th
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14
Q

Prenataly, gold standard to diagnose chromosomal abN

A

Amniocentesis

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15
Q

Reoccurence risk of T21

A
  1. Nondisjunction 1% above mom-age specific risk
  2. Unbalance translocation de novo- 1%
  3. Balanced translocation parent: 10-15% mom, 2-5% dad

No need to test parents if nondisjunction/mosaic

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16
Q

What is the syndrome which presents as:

A neonate presents with:

  • short-limbed dwarfism
  • fine, sparse hair that is lighter than that of other family members (hypotrichosis)
  • immune deficiency.
A

Cartilage-hair hypoplasia

  • mutation of the RMRP gene on chromosome 9p13
  • autosomal-recessive
  • most common in Old Order Amish and Finnish populations
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17
Q

Infant develops progressive abdominal distention. She does not have a spontaneous bowel movement. A contrast enema shows a narrow-caliber rectum and transition point in the sigmoid colon. A rectal suction biopsy finds no ganglion cells.

What does the baby have?

A

Hirsprung Disease

  • congenital absence of enteric ganglia along a variable length of intestine,
  • Incidence in 5,000 births.
  • About 70% of HD cases occur in isolation
  • Coexisting Down syndrome is present in 2% to 10%
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18
Q

Infant with

  • rhabdomyoma
  • hypopigmented ashleaf macules
  • intracranial tumor
  • seizure
  • mental deficiency
  • One parent has the same condition
A

Tuberous sclerosis

  • autosomal dominant (chromosome 9 and 16)
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19
Q

Newborn presenting with

  • pulmonic stenosis (60% incidence)
  • hypertrophic cardiomyopathy
  • short webbed neck, lymphedema
  • hypertelorism, downward eye slanting, low-set ears
  • pectus excavatum
  • cognitive deficits (35% incidence)
  • bleeding diathesis
A

Noonan syndrome

  • autosomal dominant,
  • a mutation in the PTPN11 gene
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20
Q

Newborn presenting with:

  • omphalocele
  • macroglossia
  • macrosomia
  • hemihyperplasia
  • neonatal hypoglycemia
A

Beckwith-Wiedemann syndrome

Also presents with:

  • visceromegaly
  • embryonal tumors (eg, Wilms tumor),
  • cytomegaly of the fetal adrenal cortex (pathognomonic if present)

genetic defect (most common to least)

  • Gene imprinting
  • Methylation defects
  • paternal uniparental isodisomy
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21
Q
  • craniosynostosis
  • syndactyl of hands and feet (usually involves 3 digits)
A

Apert syndrome

  • mild to severe intellectual disability
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22
Q

It is the most common of the syndromic craniosynostoses

  • no hand/feet abnormalities
  • no intellectual disability
  • Hydrocephalus
  • bilateral choanal atresia
A

Crouzon syndrome

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23
Q

Craniosynastosis plus

  • notable for foot abnormalities
    • first toes are short and wide, and bend away from the other toes. T
    • syndactyly of the toes.
  • the hand is almost never affected
  • The lifespan is expected to be normal.
A

Jackson-Weiss syndrome

24
Q

Prenatal history associated with Beckwith–Wiedemann syndrome

A
  • female monozygotic twinning, with discordance
  • assisted reproductive technology
25
Q

Most common infantile mitochondrial d/o

A

Leigh sydrome

  • gliosis
  • dymyelination
  • capillary necrosis
  • necrosis of the brain
  • Associated with WPW and HCM
26
Q

Test combination of AFP, B-HCG, unconjugated estriol, inhibin PAPP-A and nuchal translucency

-What does it screen for

A

Sequential screening

  • Trisomy 13, 18, 21, spina bifida
27
Q

Test that uses fragments of placental DNA in maternal blood stream

A

NIPS

  • identify pregnancies with trisomy 13,18, 21, sex chromosome aneuploidies
  • higher sensitivity and specificity than sequential screen
28
Q

PPV and NPV of NIPS for t21

A

PPV- 94% for high risk, 50-81% for low risk

NPV- 100%

29
Q

What is a major anomaly

A

Has significant medical or cosmetic impact- never considered part of normal variation

30
Q

What is a minor anomalies

A
  • uncommon in general population
  • do not have medical impact
31
Q

Incidence of anomalies

A
  • 1 minor- 20% of healthy newborn
  • 2 minor- 0.8%
  • 3 minor- 0.5%; have a 20% chance of a major anomaly
32
Q

Classification of constellation of anomalies:

It occurs more frequently together but no unified underlying etiology

A

Association

-ex VACTERL

33
Q

Classification of constellation of anomalies:

Abnormal formation due to external force

A

Deformation

Ex: oligohydramnios d/t renal anomaly- flattened face

34
Q

Classification of constellation of anomalies:

Growth arrest that has been developing normally

A

Disruption

ex amniotic bands

35
Q

Classification of constellation of anomalies:

Abnormal fetal structures due to underlying genetic, epigentic, environmental factor

A

Malformation

36
Q

Classification of constellation of anomalies:

Group of related anomalies from a single major anomaly that alters (follow) the surrounding or related structures

A

Sequence

Ex: Pierre Robin- microretrognathia causing tongue to impede closure of embryonal palatal shelves resulting in cleft palate

follow- path- sequence

37
Q

Classification of constellation of anomalies:

major and minor anomalies that occur in predictable fashion with a single underlying etiology

A

Syndrome

can be genetic or teratogenic

38
Q

Newborn presents with:

  • macrosomia
  • macroglossia
  • Abdominal wall defect
  • hypoglycemia

What syndrome is this?

A

Beckwith-Wiedemann Syndrome

  • imprint disorder located in chromosome 11p15.5
    • Test: Methylation study
  • associated with assisted reproductive technique
  • most sporadic
  • typical features lost during childhood
39
Q

Complication or outcome for Beckwith-Wiedemann Syndrome

A
  • Wt/ ht >p90
  • Normal development
  • Embryonal tumors (Wilms, hepatoblastoma)
    • Monitor AFP and abdominal ultrasound
40
Q
  • Neonate presents with cholestasis
  • PE: triangular facies, broad forehead, deep set eyes, small pointed chin, bulbous nose
  • Xray: butterfly vertebrae
  • Has renal anomalies

Diagnosis?

A

Allagille syndrome

Autosomal dominant , develops portal hypertension

41
Q

True or false: Trisomy 18 is no longer given as a specific example of a lethal condition that would not warrant a trial of neonatal resuscitation

A

True
As per American Heart Association and AAP
- shared decision-making is encouraged with families.
- Palliative care, a trial of resuscitation, and intensive intervention are all recognized as potential medical approaches for patients with trisomy 18.

Have global developmental delays but also the potential to meet 9- to 12-month milestones
Cardiac surgery may increase quality of life

42
Q

True or False
All trisomy syndromes are associated with inc maternal age

A

True

43
Q

What are the findings in triploidy

A

Severe growth restriction
syndactyly
clubfeet

No increased risk for reoccurence

44
Q

It presents with short limbs, ribbon like long bones and mulitple fractures

A

Osteogenesis imperfecta

  • Involves: COL1A1, COL1A2
  • Sporadic
  • 6% reoccrence rate
  • Type II most severe
45
Q

It presents with
1. large polycystic kidney
2. post axial polydactyl
3. occipital encephalocele

A

Meckel-Gruber Syndrome

Autosomal recessive
Reoccurence: 25%
Due to ciliary dysfunction

46
Q

It presents as:
1. Female
2. Fetal edema- excess post nuchal fold or dorsal edema of feet
3. Cardiac: aortic stenosis fr bicupsid valve or CoArc

A

Turner Syndrome

DX: routine chromsome plus FISH for Y chromosome (could be mosaic)
Add: ECHO, renal US (horseshoe kidney)
No inc risk

47
Q

Newborn presents with
1. SGA
2. microcephaly with round face
3. hypertelorism with downward palpebral fissure
4. single palmar crease
5. Cat-like cry
6. MR

A

Cri du chat (5p- Syndrome)

cat-like cry from hypotonia and laryngeal abnormality
Dx: high resolution chromosome, FISH
85% de novo, 15% translocation
-parents offered chromosome analysis

48
Q

Newborn presents with
Cardiac
AbN facies
Thymic hypoplasia
Cleft lip/palate
Hypocalcemia

Contruncal defect/ Aortic arch abnormality: interrupted aortic arch, truncus, TOF
Broad facies, minor ear anomaly

A

DiGeorge/Velocardial syndrome
Del 22Q11.2

  • Autosomal dominant
  • Dx: high resolution chromosome studies, FISH
  • Parents offered FISH
  • Reoccurence de novo (low), parental deletion (50%)
49
Q

Newborn presents:
1. growth restriction
2. broad forehead
3. periorbital fullness
4. long philtrum
5. wide mouth
6. supravalvular aortic stenosis

A

Williams syndrome
Del 7Q11.23

deletion of elastin gene

Dx high reoslution chromosome, FISH
Mostly de novo- no need parental study

50
Q

Newborn presents with
1. Severe hypotonia
2. feeding diffculty
3. M: undescended testes; F: hypoplastic labia minora
4. almond shaped eyes
5. narrow bifrontal diameter
6. thick saliva

A

Prader Willi syndrome
secondary to:
1. deletion of paternal 15q11-13
2. Maternal uniparental disomy
3. AbN persistence of imprint paternal chromosome

Dx DNA methylation study, FISH, Karyotype

51
Q

what is the most common molecular alteration for Beckwith-wiedemann syndrome

A

involves chromosome 11p15
loss of imprinting/methylation of maternal allele (50%)

52
Q

A neonate presents with
* brittle, light-colored (white/gray) hair
* thin/absent eyebrows
* hyperelastic skin
* full cheeks
* high-arched palate.

What is the disorder?

A

Menkes disease

- kinky hair syndrome
- X-linked recessive
- mutation in ATP7A

53
Q

Newborn presents with
* arachnodactyly with a positive “thumb sign”
* Respiratory distress
* CXR: cardiomegaly and pulmonary vascular congestion

What is the diagnosis

A

Neonatal Marfans Syndrome
* genetic disorder: mutation in the gene for fibrillin-1 (FBN1)
* occurs de novo
* Affects skeletal, cardiovascular, and pulmonary systems
* Most common presentation: arachnodactyly, , lens subluxation, flexion joint contractures and characteristic facial morphology (crumpled ears, redundant skin)

54
Q

Cardiac presentation of neonatal marfans syndrome

A
  1. pulmonary and aortic root dilation (72%-100%)
  2. mitral valve prolapse (73%-100%)
  3. mitral valve regurgitation (89%)
  4. tricuspid valve regurgitation (67%)
  5. pulmonary valve regurgitation (22%)
  6. aortic valve regurgitation (11%)

Most infants with neonatal MFS die of CHF from mitral and tricuspid valve regurgitation

55
Q

What are the different blots and what it identifies

A

SNOW
DROP
Southern Blot-DNA
Northern Blot- RNA
Western Blot- Protein

56
Q

Female newborn presented with seizures difficult to control, absent corpus callosum, occular abnormalities and hemivertebrae,
Diagnosis?

A

Aicardi syndrome

  • Tx: requires mulitple seizure meds
  • Usually de novo vs Xlinked dominant
  • Buzz words: female patient, agenesis of corpus callosum, intractable seizures, and ocular findings
57
Q

It is the most common inherited cause of intellectual disability

A

Fragile X syndrome

- example of anticipation

  • Result of result of a loss of function mutation caused by an unstable expansion of a CGG trinucleotide repeats
  • Females with CGG expansions between 50-55 and 200 repeats (premutations) : risk of premature ovarian insufficiency and neurocognitive deficits

Neontal boards J (19 decks)

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