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pediatrics > Genetics and Dysmorphology > Flashcards

Genetics and Dysmorphology Flashcards

1
Q

22q11.2 deletion
What is it also known as

A

(aka: DiGeorge, velocardiofacial syndrome)
HYPOCALCEMIA, IMMUNE DEFICIENCY, KIDNEY abnormalities
hearing loss
congenital heart disease, palatal abnormalities
characteristic facial geatures, learning problems

Dx by fluorescence in situ hybridization analysis for submicroscopic deletion of chromosome 22, high-res karyotype, or chromosomal microarray

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2
Q

branchio-oto-renal syndrome (BOR)

A

mutations of EYA1 and SIX1
deafness
external ear deformities
lateral semicircular canal hypoplasia
brachial arch anomalies
renal malformations

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3
Q

Treacher Collins Syndrome

A

mandibular and zygomatic hypoplasia
coloboma of lower eyelids, absent lower eyelashes, external ear abnormalities, preauricular hair displacement onto cheekbones
CONDUCTIVE hearing loss (not SNHL)

3 genes: TCOF1, POLR1C, POLRID

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4
Q

Spinal Muscular Atrophy (types, onset, symptoms)

A

SMA 0: prenatal onset with infantile death
SMA I: onset <6 mo with lifespan >2 years
SMA II: onset 6-18 mo, 70% alive at 25 years of age
SMA III: onset >18 mo, normal lifespan
SMA IV: adulthood onset, normal lifespan

Gene: SMN1 or SMN2 (the more 2, the milder phenotype)

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5
Q

Types of Testing (8)

A
  1. Karyotype or 2. microarray: intellectual disability, autism, or multiple congenital anomalies
  2. Fluorescent in situ
  3. Hybridization Analysis
  4. Multigene panel testing
  5. Whole exome sequencing
  6. Specific (single) gene mutation analysis
  7. DNA methylation (Prader WIlli and Angelmann)
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6
Q

Spinal Muscular Atrophy (types, onset, symptoms)

A

SMA 0: prenatal onset with infantile death
SMA I: onset <6 mo with lifespan >2 years
SMA II: onset 6-18 mo, 70% alive at 25 years of age
SMA III: onset >18 mo, normal lifespan
SMA IV: adulthood onset, normal lifespan

Gene: SMN1 or SMN2 (the more 2, the milder phenotype)

+ tongue fasciculations

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7
Q

Endocrine abnormalities associated with Prader Willi

A

GH deficiency is universal
(and other HPA dysfunction like central hypothyroidism, OSA)

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8
Q

Prader Willi Syndrome
Characteristics and Dx

A

Global hypotonia
poor suck
hypogonadism
characteristic facial features (bitemporal narrowing of head, triangular mouth)
Global developmental delay
Behavior: compulsiveness, stubbornness, manipulative
HYPERPHAGIA, but feeding difficulties
Hypoplastic genitalia
SHORT stature
osteoporosis
small hands/feet, poor growth in early childhood
Almond-shaped eyes
Obesity

Dx: DNA methylation testing of parent specific imprinting (PWCR on Chromosome 15), also 2/2 inheriting 2 copies of chromosome 15 from mother
TFTs annual

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9
Q

Zellweger Syndrome

A

AR
Presentation: newborn period with global hypotonia, poor feeding, seizures, liver cysts w/ dysfunction, distinctive facies (flattened facies, large anterior fontanelle, broad nasal bridge, widely spaced sutures.)
Usually die in 1st year of life

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10
Q

Pancytopenia (what syndrome is it associated with?)

A

Fanconi Anemia
&
X-linked dyskeratosis congenita

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11
Q

Thrombocytopenia (what syndrome is it associated with?)

A

Wiskott-Aldrich syndrome
&
Thrombocytopenia absent radius syndrome

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12
Q

Hypercalcemia
Hypercalciuria
HYPOthyroidism

A

Williams Syndrome (triad)

+ supravalvular aortic stenosis

7q11.23

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13
Q

47,XYY
Expected sexual development/fertility, development, behavioral development, stature

A
  1. normal sexual and fertility
  2. Normal to mild delayed intelligence
  3. Behavior: impulsivity & hyperactivity
  4. TALL Stature
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14
Q

47,XYY
Expected sexual development/fertility, development, behavioral development, stature

A
  1. normal sexual and fertility
  2. Normal to v mild delayed intelligence
    - learning/speech delay
  3. Behavior: impulsivity & hyperactivity
  4. TALL Stature
  5. Bonus: cystic acne as adolescence
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15
Q

47,XXX
Expected sexual development/fertility, development, behavioral development, stature

A

triple X syndrome
TALL Stature (females)
Learning disabilities: usually normal (learning/speech)
Can have 10% seizures + kidney anomalies

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16
Q

Trisomy 13

A

microcephaly
microphthalmia
low-set ears
cleft lip and/or ppalate
holoprosencephaly
cutis aplasia (absence of skin)
polydactyly
clenched hands
cryptorchidism
renal anomalies
cardiac malformations

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17
Q

Trisomy 13

A

Patau Syndrome (1/16,000)

specific to trisomy 13:
cleft lip and/or palate
holoprosencephaly
cutis aplasia (absence of skin)
MIDLINE DEFECTS, HYPOTONIA, MICROPHTHALMIA (vs. tri 18)

others:
microcephaly
low-set ears
polydactyly
clenched hands
cryptorchidism
renal anomalies
cardiac malformations

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18
Q

Trisomy 18
features and how is it different/ similar to trisomy 13

A

Edwards Syndrome (1/5000)

Different: hypertonia, clenched fists, rocker-bottom feet, myomeningocele

Similarities to trisomy 13:
characteristic facial dysmorphology, prenatal and postnatal growth deficiency, renal and cardiac anomalies, severe intellectual disability, and nuchal thickening.

Dolichocephaly, external ear anomalies, micrognathia, short palpebral fissures, and small face.

5-10% of affected infants survive beyond the first year.

Non-inherited

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19
Q

NF2 eye exam findings

A

subcapsular lens opacity (rarely will progress to cataract)

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20
Q

NF1 eye exam findings

A

iris lisch nodules

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21
Q

colobomas are associated with ____

A

CHARGE

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22
Q

Heterochromia iridis is associated with ____ (4)

A
  1. Waardenburg syndrome
  2. Sturge-Weber Syndrome
  3. Parry-Romberg syndrome
  4. Horner syndrome
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23
Q

Shwachman-Diamond Syndrome

A

Exocrine Pancreatic Insufficiency (low elastase level), neutropenia, bone deformity, short stature, multiple infections

AR

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24
Q

If both parents have 1 copy of autosomal recessive trait, what’s the risk of kids getting the disease

A

25%

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25
Q

Which 3 diseases are X-linked dominant

A
  1. Incontinentia pigmenti
  2. Rett Syndrome
  3. Fragile X syndrome
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26
Q

MELAS

A

Mitochondrial Encephalomyopathy
Lactic Acidosis
Stroke-like episodes

  • mitochondrial pattern of inheritence
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27
Q

Leigh Syndrome mode of inheritance

A

mitochondrial and AR inheritance

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28
Q

Uniparental disomy (UPD)
- what is it
- what syndromes are inherited this way

A

Patient inherits 2 copies from one parent’s chromosome (one parent’s is missing)

  1. Prader-Willi
  2. Angelman
  3. Beckwith-Wiedemann
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29
Q

Mode of inheritance for Friedreich Ataxia, Huntington, Fragile X

A

trinucleotide repeat expansion

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30
Q

Trisomy 21 physical presentation (7 systems)

A
  1. Face: epicanthal folds with up-slanting palpebral fissures, brushfield spots of iris, flat nasal bridge
  2. Neurologic: hypotonia
  3. Cardiovascular: conotruncal defects, AV canal defects
  4. GI: duodenal atresia, tracheoesophageal fistula, Hirschsprung, imperforate anus, Celiac
  5. Extremities: 5th finger clinodactyly, single transverse palmar creased, sandal gap toes
  6. Heme: Transent myeloproliferative disorder (10%), Lifetime risk of leukemia 1%
  7. Other: OSA, Obesity, Hearing loss in adulthood
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31
Q

Preventative health for trisomy 21 (5)

A
  1. CBC and TFT 6mo then 1yr and annually
  2. TTE
  3. XR cervical spine (if asymptomatic or getting intubated)
  4. Abd imaging if symptomatic
  5. Sleep study by 4 yo
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32
Q

Syndromes with craniosynostosis (3)

A
  1. Crouzon - (FGFR2)
  2. Pfeiffer Syndrome - (hearing loss, pollux/hallus varus +/- syndactyly)
  3. Apert Syndrome (prominent syndactyly, hearing loss)
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33
Q

Common clinical presentation of Crouzon

A
  1. Hypertelorism (large space between eyes)
  2. proptosis
  3. midface hypoplasia
  4. Cleft lip/pallate
  5. Beaked nose
  6. Prognathism

*normal intelligence and normal extremities)

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34
Q

Syndromes with PUBERTAL phenotypes (5)

A
  1. Turner
  2. Noonan
  3. Klinefelter
  4. Fragile X
  5. Prader-Willi
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35
Q

Turner Syndrome mode of inheritance

A

monosomy X (45 X)
NOT inherited
NOT associated with advanced materanal age

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36
Q

Noonan Syndrome mode of inheritance

A

Multiple gene mutations: PTPN11, SOS1, RAF1, RIT1) activation of RAS/MAPK cell signaling pathway (disrupts cell growth and division)

AD inheritance

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37
Q

Features of Noonan syndrome

A
  1. facial dysmorphology
  2. congenital heart defects
  3. short stature
  4. developmental delay
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38
Q

47,XXY
Development, stature, pubertal

A

Klinefelter

TALL stature (males)

Gynecomastia, microorchidism, micropenis, hypospadias
- Delayed puberty – needs testosterone replacement therapy if no spontaneous puberty, but usually normal
- Increased risk of testicular and breast cancer

Development: variable (speech, autism)

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39
Q

Turner sd physical manifestation (4 systems)

A
  1. Face: webbed neck, redundant nuchal skin, pos posterior hairline
  2. CV: shield chest with wide-spaced nipples, congenital heart defects (left-sided bicuspid aortic valve is common, coarctation of aorta)
  3. Extremities: congenital lymphedema (hands & feet), dysplastic nails, skeletal abnormalities (Short 4th 5th metacarpals, cubitus valgus, scoliosis, congenital hip dislocation)
  4. Other: short stature, renal abnl
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40
Q

Turner dx and other labs

A

Karyoptyping (FISH or array)
FSH & LH high, Estradiol Low
TFT
Imaging: TTE, renal bladder, Ophthalmology
Other: audiology

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41
Q

Turner
1. Stature
2. Puberty
3. Fertility

A
  1. Short (because of estrogen insufficiency, not because of premature menarchy)
  2. delayed
  3. infertile (streaked ovaries with premature ovarian failure)
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42
Q

Turner management/tx

A
  1. growth hormone
  2. Estrogen by 13yo if no spontaneous puberty
  3. DM (increased risk)
  4. Surveillance for hypothyroidism, celiac, IBD
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43
Q

Noonan how is it different from Turner

and what else

A

Down-slanting palpebral fissures
RIGHT-sided CV: pulm vein stenosis, atrial septal defect, hypertrophic cardiolmyopathy

  1. Face: webbed neck, low-set posteriorly rotated ears, hypertelorism, epicanthal folds, ptsosis, ocular anomalies
  2. CV: pectus carinatum, wide-spaced nipples
  3. GU: cryptoorchidism
  4. Heme: coagulopathy
  5. Extremities: lymphatic dysplasia, other, short stature
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44
Q

Noonan Dx

A

Labs: Multigene panel (PTPN11, SOS1, RAF1, RIT1)
CBC ,PT/PTT
Urinalysis

Imaging: TTE, renal US, XR chest/spine, MRI if symptomatic

Studies: ECG, ophtho eval, audiology

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45
Q

Noonan
1. Stature/growth
2. Puberty
3. development

A
  1. post-natal growth failure by 1 year of age
  2. normal puberty
  3. delays possible
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46
Q

Fragile X inheritance and genetic problem

A

XL dominant
trinucleotide CGG repeat expansion in FMR 1

<44 repeats = normal
Intermediate 45-54
Premutation 55-200
Full mutation 200+

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47
Q

Most common inherited intellectual disability

A

Fragile X

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48
Q

Fragile X physical manifestation

A
  1. Face: long narrow face, large ears, prominent jaw, tall forehead
  2. Neuro: Intellectual disability, speech delay, behavioral issues, fragile x- associated tremor ataxia syndrome (FXTAS), strabismus, seizures
  3. GU: Macroorchidism, extremities, pes planus, female carriers – premature ovarian failure
  4. CV: mitral valve prolapse
    infertile
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49
Q

NF1 Inheritance

A

Autosomal dominance

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50
Q

Diagnostic criteria for NF1

A

2+ of the following:

  1. 6 hyperpigmented cafe-au-lait macules (5 mm in children, 15 mm postpuberty)
  2. 2+ neurofibromas or plexiform neurofibroma
  3. axillary or inguinal freckling (often appears in late childhood)
  4. optic glioma <10 yo
  5. 2+ lisch nodules (iris hamartomas, <20 years of age)
  6. Tibial pseudoarthrosis or sphenoid dysplasia
  7. 1st degree relative with NF1
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51
Q

If you think someone has NF1, what is the imaging and labs to get

A
  1. NF1 molecular testing
  2. MRI for detection and monitoring of internal neurofibromas over time, including signes of cerebrovascular disease
  3. Unidentified bright objects (UBOs) visualized in 50% of children with NF1
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52
Q

Monitoring and Tx for NF1

A

TUMORS
Ophtho: dx of optic glioma
Seizure treatment
Tumors: glioma and pheochromocytomas, jeuvenile myelomonocytic leukemia, breast cancer
Routine tumor surveillance
Scoliosis monitoring

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53
Q

Clinical diagnosis of NF2

A

One or more of the following:
1. Bilateral vestibular schwannomas
2. 1st degree relative with NF2 and unilateral schwanomma, glioma, neurofibroma, posterior subcapsular lenticular opacities
3. Unilateral schwannoma and any two of those listed previously
4. Multiple meningiomas and unilateral schwannoma or any two of the following: schwannoma, glioma, neurofibroma, cataract

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54
Q

Dx of NF2

A

NF2 molecular genetic testing
MRI/CT head
audiology eval
ophtho

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55
Q

Routine imaging in NF2: (what is it and how often)

A

Annual MRI >10 yo

56
Q

Tuberous Sclerosis Complex can also be associated with what other disease

A

Polycystic kidney disease (PKD1)

57
Q

Mode of inherritence of Tuberous sclerosis and NF2

A

AD

58
Q

Clinical dx of tuberous sclerosis

A

Two or more of the following:

  1. > 3 hypopigmented macules (ash leaf spots)
  2. Shagreen patch (raised flesh colored patch on lower back) 50% of cases
  3. Facial angiofibromas ~4 yo (75%)
  4. Ungual fibromas (growth at the nail bed)
  5. Cortical tubers (80%)
  6. Subependymal giant cell astrocytomas (SEGAs, 10%)
  7. Lymphangioleiomyomatosis (LAM, 80% of females by age 40 years)
  8. Renal angiomyolipomas (70%)
  9. Cardiac rhabdo myomas (50%)
  10. Retinal hamartomas (40%)
59
Q

Cognitive development of Tuberous sclerosis

A

Epilepsy (VERY COMMON)
1. ADHD
2. Cognitive impairment
3. Disruptive behavior
4. Anxiety
5. Depression

60
Q

Surveillance for tuberous sclerosis

A
  1. Brain MRI (q3 years <25y if asymptomatic) for cortical tubers, radial glial bands, and subependymal nodules
    1a. Chest CT every 5-10 yr in asympt females >18yo to monitor for LAM
  2. EEG
  3. ECG
  4. TTE
  5. Renal bladder US
  6. Ophtho
61
Q

Tx of Tuberous Sclerosis

A

mTOR inhibitor therapy – for progressing SEGAs

Vigabatrin for seizures

62
Q

Skin findings of Incontinentia Pigmenti

A
  1. Blaschko line blistering rash in infancy,
  2. swirling macular hyperpigmentation in childhood
  3. Linear hypopigmentation in adulthood
63
Q

Emergencies in patients with Incontinentia Pigmenti

A

Retinal detachment

Seizure

64
Q

Mode of inheritance of Incontinentia Pigmenti

A

X-Linked Dominance

65
Q

Mode of inheritance or Cause of Angelman Syndrome

A

Deletion of maternal segment of chromosome 15, or paternal UPD (only inheriting chromosome 15 from father).

Loss of function of UBE3A

66
Q

Clinical presentation of Angelman Sd (Neuro, Movement, Personality)

A

Neuro:
1. Microcephaly
2. Seizure
3. Sleep disturbance
4. Cognitive impairment (non-verbal, developmental delay) 6-12mo

Movement:
1. Ataxia
2. Hypermotoric movements (arm tremors, jerky movements, clumsiness)

Personality:
1. Happy Demeanor, inappropriate laughter
2. Excitable, with hand-flapping

67
Q

Lesch-Nyhan Sd, what is the main problem

A

Hyperuricemia
low HRPT enzyme activity

due to decreased Hypoxanthine-guanine phosphoribosyltransferase activity

68
Q

How to test for Angelman Sd

A

methylation testing of 15q11.2-q13 region of chromosome 15

UBE3A molecular genetic testing

69
Q

Meds to avoid in Angelman (3)

A

carba,azepine
Vigabatrin
Tiagabine

70
Q

Mode of inheritance Lesh-Nyhan Sd

A

X-linked recessive

71
Q

Clinical findings LNS

A

hypotonia, extrapyramidal and pyramidal involvement, developement delay

SELF-INJURIOUS BEHAVIOR

72
Q

How to diagnose LNS

A

molecular sequencing

73
Q

Management of LNS

A

allopurinol
baclofen
modalities to reduce self-injurious behaviors

74
Q

Rett Sd mode of inheritance

A

X-linked dominant

75
Q

Rett clinical presentation

A

Neuro
Microcephaly, seizure, stereotypies (hand-wringing), gait ataxia, bruxism, sleep disturbance, neuropsychiatric disturbance (agitation), developmentally normal until regression (~18 mo)

GI
Constipation, extremities, small hands/feet

Other
FTT, scoliosis

76
Q

Diagnosis of Rett

A

MECP2 molecular genetic testing

77
Q

Cardiac complication of Rett

A

Prolonged QTc

78
Q

Williams Sd cause and manifestation

A

Deletion of chromosome 7 (~30 genes, ELN)

Abnormal elastin production –> CV and connective tissue problems

79
Q

Williams Sd mode of inheritance

A

AD (but not typically inherited)

80
Q

Williams Sd Face

A

“Elfin facies”
Broad forehead with bitemporal narrowing
Periorbital fullness
Malar hypoplasia
Long philtrum
Full lips with side mouth

81
Q

Williams Sd Neurologic findings (3)

A

Stellate iris
Friendly – “cocktail party personality”
Intellectual disability

82
Q

Williams Sd Cardiac manifestations

A

supravalvular aortic stenosis with or without coarctation
Other vascular abnormalities: pulmonary artery stenosis & renal artery stenosis

83
Q

Williams Sd GI manifestations

A

hernias
rectal prolapse

84
Q

Williams syndrome endo manifestations

A

hypothyroidism
HYPERcalcemia

85
Q

How to test for Williams Sd

A
  1. Chromosomal Microarray (fluorescence in situ hybridization [FISH]
  2. Multiplex ligation-dependent probe amplification [MLPA]
  3. ELN Molecular genetic testing
86
Q

Huntington Disease
- What’s the trinucleotide repeat problem

A

CAG

87
Q

Huntington mode of inheritance

A

AD

88
Q

Huntington mean age of onset
Survival after onset

A

35-44 yo
15-18 years after onset

89
Q

Symptoms of Huntington

A

Motor:
- Early: involuntary movements, dystonia, chorea, speech
- Late: rigidity, bradykinesia, inability to walk/speak

Psychiatric (irritability, anxiety, depression)

90
Q

Huntington treatment

A

Neuroleptic
Antiparkinsonian and psych agents

91
Q

Mutation in Achondroplasia

A

FGFR3
Gly380Arg

92
Q

Achondroplasia mode of inheritance

A

AD
>80% de novo mutation

93
Q

Imaging for achondroplasia

A

skeletal survey
Baseline CT head to eval foramen magnum for stenosis

94
Q

Other medical comorbidities of achondroplasia

A

recurrent otitis media, lordosis, kyphoscoliosis and hydrocephalus, hearing loss, monitor spinal stenosis in adults, sleep apnea

95
Q

What to watch out for in sports for achondroplasia

A

contact sports, diving, gymanstics –> atlantoaxial instability

  • also watch for intubation
96
Q

Common cause of early death for achondroplasia (2)

A

respiratory insufficiency from small thorax and neurologic deficit from cervicomedullary junction compression

97
Q

What is Arthrogryposis Multiplex Congenita (AMC)

A

multiple joint contractures that occur in neonates with congenital myasthenic syndromes (CMS) due to lack of in utero fetal movement.

98
Q

Other manifestations of Arthrogryposis Multiplex congenita

A

neonatal hypotonia
ptosis
high arched palate
poor feeding
respiratoryinsufficiency (pulm hypoplasia, small thorax)

99
Q

Does achondroplasia benefit from GH?

A

NO

100
Q

Bell shaped chest, short ribs, shortened limbs, polydactyly. Diagnosis?

A

Jeune Asphyxiating Thoracic dystrophy (JATD)

101
Q

How to diagnose jeune asphyxiating thoracic dystrophy and what’s the mode of inheritance

A

molecular genetic study” mutation in IFT80, TTC21B, DYNC2H1

AR

102
Q

Marfan’s mutation

A

FBN1 –> fibrillin 1 is reduced

103
Q

Marfan’s preventative measures

A
  1. yearly echo
  2. intermittent surveillance of aorta with CR or MRA in adolescence
104
Q

Mode of inheritance Marfan

A

AD

105
Q

Pharmacotherapy in Marfan

A

beta blocker and ACE for hemodynamic stress and remodeling

106
Q

Sports in Marfan syndrome:

A

avoid contact sports (aortic dissection risk)
avoid positive pressure (wind instrument, scuba diving - risk of pneumothorax)

107
Q

Long, narrow face, enophtalmos, Down-slanting palperal fissures, malar hypoplasia, micro/retrhognathia, high arched palate with dental crowding..
Marfan’s or Ehler danlos?

A

Marfan

108
Q

Cardiovascular difference between Marfan and Ehler Danlos

A

Marfan: pectus excavatum or carinatum, aortic dilation/dissection, MVP

Ehler danlos:
aortic ROOT dilation (nonhypermobile)
MVP

109
Q

Neurologic diff between Marfan and Ehler Danlos

A

BOTH: normal intelligence

Marfan: ectopia lentis, myopia
Ehler Danlos: hypotonia, delayed motor development

110
Q

Extremity differences between Marfan and Ehler Danlos

A

Marfan: arachnodactyly, reduced elbow extension, positive wrist/thumb sign

Ehler danlos: joint hypermobility, easy dislocations/subluxations, cramping

111
Q

Mutation in Ehlers-Danlos Syndrome

A

COL5A2 and COL5A1 – COLLAGEN production

112
Q

Mode of inheritance Ehlers Danlos

A

Mostly AD
Can be AR

113
Q

Types of Ehlers Danlos (III, IV, VI)

A

III: hypermobile
IV: vascular
VI: kyphoscoliotic

114
Q

Which is the most dangerous type of Ehlers Danlos

A

Vascular (IV) can cause internal bleeding, stroke, peritoneal perforation, organ rupture, and shock

115
Q

VACTRL

A

V vertebral
A anal atresia
C cardiac defect
TE tracheoesophageal fistula
R renal defects
L limb defects

116
Q

CHARGE

A

C coloboma
H heart defect
A atresia choanae
R retardation
G genital anomalies
E ear anomalies

117
Q

Macroglossia, unusual ear creases, hemihypertrophy, visceromegaly neonate born at 4500g with hypoglycemia. What is the dx and what are they at increased risk for?

A

Beckwith-Wiedemann
Wilms tumor (and other embryonal tumors like hepatoblastoma, neuroblastoma)

118
Q

What is astrocytoma associated with?

A

NF1, tuberous sclerosis, melanoma-astrocytoma syndrome

119
Q

Stickler syndrome

A

significant airway obstruction due to severe micrognathia, wide U-shaped cleft palate, and glossoptosis, high grade myopia, vitreous abnormalities, SNHL

Joint laxity, flat facies

120
Q

Syndromes with pierre robin sequence

A

treacher collins
DiGeorge
Stickler

121
Q

developmental delays, hypotonia, hearing loss, and a previously diagnosed generalized tonic-clonic seizure disorder. Her facies are remarkable for microcephaly, “Greek warrior” helmet nose, high anterior hairline with prominent glabella, hypertelorism, epicanthus, high-arched eyebrows, downturned mouth, small jaw, and small ears with bilateral ear pits. ASD. IUGR. Dx?

A

Wolf-Hirschhorn syndrome
4p deletion

122
Q

5p deletion, small head, epicanthal folds, micrognathia, broad nasal bridge, hypertelorism, downward-slanting palpebral fissures, and moderate-to-severe intellectual disability. Dx?

A

Cri du Chat

123
Q

small palpebral fissures, smooth philtrum, and a thin upper lip—in addition to failure to thrive and being small for gestational age

A

fetal alcohol syndrome

124
Q

Mode of inheritance Duchenne muscular dystrophy

A

X-linked recessive

125
Q

delayed achievement of motor milestones, calf pseudohypertrophy in early stages, and proximal muscle weakness that leads to wheelchair dependence by the age of 10 to 12 years. Dx?

A

Duchenne muscular dystrophy

126
Q

Cardiomyopathy in Duchenne muscular dystrophy affect all men after age ___

A

18 yo

127
Q

Female carriers of Duchenne Muscular Dystrophy has ___

A

mild muscle weakness and dilated cardiomyopathy

128
Q

Endocrine abnormalities associated with Prader Willi

A

GH deficiency is universal
(and other HPA dysfunction like central hypothyroidism, OSA)

129
Q

CTG repeats in DMPK

A

type 1 myotonic dystrophy

130
Q

GAA repeats in FXN gene

A

Friedreich ataxia

131
Q

CAG repeats in HTT

A

Huntington

132
Q

CGG repeats in FMR1

A

Fragile X syndrome

133
Q

Repeat cutoffs for fragile X syndrome

A

CGG in FMR1
Intermediate = 45-54 (easily transmitted by mother to offspring)
premutation = 55-200 (risk of developing tremor/ataxia, in females can have premature ovarian failure infertility, early menopause)
>200 = full mutation - males all affected

134
Q

Decreased fetal movement, polyhydramnios, tented upper lip, hypotonia, bilateral club feet. Mother with droopy eyelids, cataracts, difficulty releasing grip after shaking hands, PPM placement. Dx?

A

myotonic dystrophy type 1 (congenital)

135
Q

Best test for a neonate with multiple congenital anomalies that are not suggestive of a specific genetic syndrome

A

chromosomal microarray (deletion/duplications of genomic content across all chromosomes)

136
Q

critically ill, small-for-gestational-age, female neonate with tetralogy of Fallot, cleft palate, and hypocalcemia

A

DiGeorge
22q11.2 deletion (evaluate with FISH)

137
Q

Mode of inheritance of CF

A

autosomal recessive

pediatrics (26 decks)

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