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Pediatric Boards > Genetics > Flashcards

Genetics Flashcards

1
Q

Brachial cyst vs thyroglossal duct cyst

A

Thyroglossal duct cyst– midline or near midline (usually moves the tongue movement/swallowing

Brachial cleft cyst– can be anywhere along the neck (more lateral) and even more preauricular, may have an overlying pore or sinus; marsupilization if becomes secondarily infected

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2
Q

Waardenburg Syndrome and mode of inheritance?

A 
Autosomal dominant
White forelock of hair
Albinism (including ocular)
Heterochromia
Deafness
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3
Q

Apert Syndrome and mode of inheritance?

A 
Autosomal dominant 
Early cranial suture closure (long head)
Bilateral syndactyly 
Choanal atresia
Cleft palate

Head shaped like “A PEAR” with duck-like hands; or think of daffy-duck?

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4
Q

Nail Patella Syndrome

A 
Mode of inheritance: Autosomal dominant
Abnormal nails (pitting, ridging, splitting)
Abnormal patella (small, absent, irregular)
Elbow deformities as well (kinda like the patella of the hands)
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5
Q

Noonan’s Syndrome

A

Autosomal dominant
Webbed neck, low set ears
HOCM/ pulmonic stenosis (subvalvular)
Pectus excavatum

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6
Q

Achondroplasia

A

Autosomal dominant
Frontal bossing/macrocephaly
Normal sized torso with short arms and legs
Sudden death cause: compression of the cervicomedullary junction (head is too big for body–memory aid)
Genu varum deformity (bowed legs)
Trident-like fingers– because hand is so small, fingers have to spread far apart from each other like a trident

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7
Q

Peutz-Jeghers Syndrome

A 
Autosomal dominant
AKA hereditary intestinal polyposis 
Hamartomatous GI polyps
Hyperpigmented macules on the lip/oral mucosa
Life-time risk of cancer is increased.
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8
Q

Gardner Syndrome

A

Autosomal dominant
AKA familial adenomatous polyposis
Premalignant polyps throughout the intestine but whole lot of other extras
Extra teeth and tumors in other parts of the body–including bone tumors– needs to be resected

Gardner with extra teeth with all kinds of overGROWTH all over him

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9
Q

Retinoblastoma

A

Autosomal dominant– although high rate of spontaneous mutations, don’t discount just because there is no family history
Increased risk of osteosarcoma
Leukocoria

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10
Q

von Willebrand Factor deficiency mode of inheritance?

A

Autosomal dominant

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11
Q

Acute Intermittent Porphyria mode of inheritance and disease symptoms?

A

Autosomal dominant
Accumulation of metabolite of heme synthesis in the cytoplasm of cells
Abdominal pain, confusion, weakness, photosensitivity
Triggers– infections, hypoglycemia, seizure/sulfa medications
Treat with D10 infusion and stop offending agents.

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12
Q

Retinitis pigmentosa

A

Retinal dystrophy leading to blindness

Multiple modes of inheritance

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13
Q

Tuberous Sclerosis mode of inheritance?

A

Autosomal dominant

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14
Q

Mnemonic for autosomal recessive disorders?

A

PAT HAS WACK GAS in the BACK SEAT of the automobile

Phenylketonuria (PKU)
Alpha-1- Antitrypsin
Tay-Sachs 
Hurler's syndrome
Ataxia Telangiectasia
Sickle cell disease and Thalassemias
Wilson's disease
Alpers Syndrome
Cystic Fibrosis
Kartagener's Syndrome
Galactosemia
A- repeat A's from above
S- repeat S's from above

BACK SEAT of automobile– autosomal recessive

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15
Q

Johanson-Blizzard Syndrome

A

Autosomal recessive

Pancreatic insufficiency
Hypoplasia of nostrils

Scarlett Johansson is holding her pancreas and cannot smell?

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16
Q

X-linked dominant disorders will present in what population of patients?

A

100% daughters of an affected male, does not present in sons (because gets Y chromosome from father)

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17
Q

Familial Hypophosphatemic Rickets is also known as? Mode of inheritance?

A

Vitamin D Resistant Rickets

X-linked dominant

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18
Q

Aicardi syndrome

A

X-linked dominant
Missing corpus callosum
Mental retardation
Infantile spasms, epilepsy

Imagine Cardi-B missing her corpus callosum because she is dumb– memory aid

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19
Q

Alport Syndrome

A

X-linked dominant
Renal disease– hematuria and eventually ESRD
Bilateral sensorineural hearing loss
Vision problems

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20
Q

Fragile X Syndrome

A

X-linked dominant
Trinucleotide repeat disorder
Most common cause of inherited MR
Social awkwardness, macro-orchidism, large ears, prominent jaw

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21
Q

Chronic Granulomatous Disease

A

X-linked recessive
Child is diagnosed with Serratia
Other common bugs (Aspergillus, Candida, E. coli, staph- catalase positive organisms)
Nitroblue Tetrazolium or Dihydrorhodamine testing
Several kinds of abscesses, osteomyelitis

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22
Q

Duchenne Muscular Dystrophy

A

X-linked recessive
Deficiency of the dystropin gene
Poor cough, frequent pneumonias
Weak respiratory muscles– respiratory failure
Gower’s maneuver
CK for screening
Genetic testing for confirmation– if unknown, muscle biopsy
MOP can have elevated CK if she is a carrier and be asymptomatic

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23
Q

G6PD deficiency

A

X-linked recessive
Jaundice, dark urine, hemolytic anemia
Exposure to Bactrim, fava beans, cipro, nitrofurantoin
Mediterranean and African American descent
Heinz bodies–denatured hemoglobin
Check G6PD levels few weeks after acute phase– false negative

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24
Q

Hemophilia A and Hemophilia B

A

X-linked recessive
Factor VIII and IX deficiencies respectively
PTT is increased
Deep bleeds (into joints/muscles)

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25
Q

Hunter’s Syndrome mode of inheritance?

A

X-linked recessive

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26
Q

Ornithine Transcarbamylase deficiency mode of inheritance?

A

X-linked recessive

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27
Q

Androgen Insensitivity?

A

X-linked recessive
Testicular feminization (no male external genitalia even though testes/gonads are present)
Testes may be found in the inguinal canal
Blind ending vagina
Lacks of female reproductive organs (ovaries, uterus)
May have breasts and no pubic hair?

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28
Q

Wiskott Aldrich Syndrome?

A 
X-linked recessive
Both T and B cell problems
Thrombocytopenia or small sized thrombocytes
Recurrent infections
Eczema
IgM low, IgA high 
Treatment: BMT
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29
Q

Name the disorder: round face, almond shaped eyes, MR, upslanting palpebral fissures, sandle-toe deformity, simian crease, flattened nasal bridge, macroglossia

A

Down’s Syndrome

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30
Q

Name the disorder: atlanto-axial instability, AV canal or VSD heart defect, clinodactyly (incurved pinky finger)

A

Down’s Syndrome

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31
Q

True or False: both males and females with Down’s Syndrome are infertile.

A

False. Males with Down’s Syndrome are typically infertile, while females with Down’s are not.

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32
Q

Brushfield spots vs Stellate eyes

A

Brushfield spots- associated with Down’s syndrome, around the periphery of the iris
Stellate eyes- Williams Syndrome involves the entire eyes, bursting from the center

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33
Q

Trisomy 21 Down’s– risk of recurrence in future pregnancies? What would you see on karyotype of parents?

A

Mother’s age related risk + 1%

Normal parental karyotype, non-dysjunction occurs during miosis

34
Q

Translocation Down’s workup

A

Need parental karyotype to determine risk of future recurrent pregnancies with Down’s
Chromosome 21 translocated onto chromosome 14 or another chromosome 21

35
Q

Translocation Down’s risk of recurrence in future pregnancies?

A

If t(21q;21q)– 100% risk of recurrence, because they only have that copy of chromosome 21 to give

If t(21q;14q)–
Mom is the carrier: 10-15% risk of recurrence
Dad is the carrier: 5% risk of recurrence

36
Q

Presentation of atlantoaxial instability in a down’s syndrome patient?

A

Brisk reflexes, gait disturbances or other neurological symptoms in a Down’s Syndrome kid

Obtain an X-ray/MRI (preferred) in this kid

37
Q 
Name the disorder and prognosis?
Rocker bottom feet
Clenched fists with overlapping fingers
Horseshoe kidneys 
Small jaw (micrognathia)
Pectus excavatum
A

Trisomy 18 or Edward’s Syndrome

Usually die in utero or survive to 1 years of age

38
Q 
Name the disorder and prognosis?
Punched out scalp lesions
Low set ears
Cystic kidneys
Cleft lip/palate
Micro-ophthalmia, microcephaly
Polydactyly
A

Trisomy 13 or Patau’s Syndrome

Poor prognosis, usually survive to 6 months old

39
Q

Bifid uvula may be an outward sign of what hidden issue?

A

Submucosal cleft palate

May also have difficulty hearing due to affected tympanic membrane movement.

40
Q 
Name the disorder: 
Cocktail party personality
Elfin face
Low and flat nasal bridge
Upturned nose
Wide spaced teeth
Supravalvular aortic stenosis 
Peripheral pulmonic stenosis
A

Williams’s syndrome

Hypercalcemia

41
Q

Holt Oram Syndrome

A

Upper limbs and cardiac abnormalities
Upper limbs- hypoplastic radius and thumb OR triple jointed thumb
Cardiac abnormalities- ASD/VSD

42
Q

Cri-du-chat syndrome, genetic locus?

A 
5p deletion syndrome or 5p minus syndrome
High-pitched cry
Developmental delay
Wide-set eyes 
High palate
43
Q

Crouzon Syndrome

A

Early suture closure (craniosynostosis)
Proptosis
Frontal bossing
Cleft lip/palate

Similar to Apert Syndrome– EXCEPT LACK OF SYNDACTYLY

44
Q

Angelman Syndrome, genetic imprinting?

A 
Happy, laughing frequently
Puppet gait-- ataxia 
Delayed milestones
Chromosome 15- missing or defective mom's copy, paternal imprinting (behaves like the paternal allele for the gene)
Diagnosed by FISH

Father’s angel, daddy’s girl– but can be found in boys and girls

45
Q

Prader-Willi Syndrome, genetic imprinting?

A 
Hypotonia as a baby, poor feeding
Growing up and have an enormous appetite
Small phallus
Obesity
Small hands
Almond-shaped eyes
Mild retardation
Diagnosed by FISH

Absence or dysfunction of the paternal copy; maternal imprinting (behaves like the maternal allele for the gene)

Mama’s boy, feeds him whatever he wants– but can be found in boys and girls

46
Q

Supravalvular aortic stenosis is associated with which disorder?

A

Williams Syndrome

47
Q

Laurence Moon Biedl Syndrome features

A

Similar to Prader-Willi syndrome but PROGRESSIVE
Replace Laurence with Insurance
Moon– (OoO) makes you think of eyes (retinitis pigmentosa), small brain (progressive CNS disease), and hypogonadism/hypospadias

48
Q

Beckwith-Wiedemann Syndrome features

A 
Macroglossia, macrosomia (large body)
Hemihypertrophy
Increased risk of Wilms Tumor
Mid-line defects (omphalocele/umbilical hernia)
Born with hypoglycemia
49
Q

Klippel-Trenaunay Syndrome features

A

AV fistulae
Port-wine stain
Hemihypertrophy (bone, soft tissues)–especially of a unilateral extremity

50
Q

Hemihypertrophy is found in which disorders?

A

Beckwith-Wiedemann Syndrome
Klippel-Trenaunay Syndrome
Russell-Silver Syndrome
Proteus Syndrome

51
Q

Smith-Lemli-Opitz and mode of inheritance?

A

Autosomal recessive
Cleft palate, 2-3 syndactyly of toes, extra digits
Microcephaly, MR
Underdeveloped genitalia in males/hypospadias
Cardiac defects

52
Q

Klippel-Feil Syndrome features?

A

Failure of the cervical vertebrae to clip–> torticollis

53
Q

Proteus Syndrome features?

A

Hemihypertrophy

54
Q

Pierre-Robin Syndrome features?

A

Triad of cleft palate, micro/retrognathia, and glossoptosis (retraction and falling back of tongue onto posterior palate because of retrognathia). Concern for airway obstruction, especially with laying supine.
High risk for cor pulmonale within the first year of life.
Syndactyly/clinodactyly

55
Q

CHARGE syndrome?

A 
Coloboma 
Heart defects
Atresia (choanal)
Retarded (slowed) growth
Genitourinary anomalies
Ear anomalies

Leading cause of congenital blindness-deafness.

56
Q

Cockayne Syndrome features?

A

Premature aged appearance, photosensitive skin, dwarfism (slowed growth), vision/hearing problems

57
Q

True or false. The most likely physical manifestation of schwannomas includes bitemporal hemianopsia.

A

FALSE. Bilateral ACOUSTIC neuromas– hearing impairment is more likely. Bilateral hemianopsia is associated with a pituitary gland or sella turcica tumor.

58
Q

Name the disorder: facial muscle wasting/atrophy, firm grip with difficulty releasing grip, proximal muscle strength is intact. What is the mode of inheritance of this condition?

A

Myotonic dystrophy. Autosomal dominant.

59
Q

Name the disorder: port-wine stain along the V1 distribution of the face. What complications is this child at an increased risk for?

A

Sturge-Weber syndrome– think of a web of capillaries over the face? Complications- seizures/glaucoma.

60
Q

Name the disorder: at birth infant identified to have a low-lying hairline, redundant nuchal fold and edema of dorsal hands and feet.

A

Turner Syndrome

61
Q

Noonan syndrome is associated with what kind of hematologic condition?

A

Bleed diathesis– usually factor 11 deficiency/thrombocytopenia; frequent bruising

62
Q

Wide carrying angle and hyperconvex fingers nails are associated with what disorder?

A

Turner Syndrome (also known as cubitus valgus)

63
Q

What are some signs/symptoms of myotubular myopathy in a newborn?

A

Poor muscle mass (arrest in neonatal muscle maturation), respiratory distress/failure, muscle biopsy shows poorly developed muscle fibers and abnormal nuclei; pharyngeal weakness–> poor swallow–> polyhydramnios

64
Q

Name the disorder: downward-facing epicanthal folds, eyelid coloboma, hypoplasia of significant portion of facial bones (frontal/malar/etc), normal intelligence, retrognathia, lacking eyelashes on the lower lids, malformed ears, poorly formed sinuses, bilateral conductive hearing loss, cleft lip/palate

A

Treacher-Collins Syndrome

65
Q

Name the disorder: frequent infections, loud/harsh holosystolic murmur at the LLSB, hypertelorism, under-developed philtrum, bifid uvula, velopharyngeal insufficiency.

A

DiGeorge Syndrome
Velopharyngeal insufficiency– soft palate is supposed to block off nasopharynx from oropharynx during speech/swallow but it doesn’t (nasal speech, regurgitation of oral cavity contents into nasopharynx)

66
Q

Mnemonic CATCH 22

A

For DiGeorge Syndrome

Cardiac anomalies (ToF, truncus arteriosus, ASD/VSD)
Abnormal facies
Thymic aplasia
Cleft palate/velopharyngeal insufficiency
Hypocalcemia/HypoPTH
22– chromosome 22 microdeletion

67
Q

Cardiac rhabdomyomas are associated with which syndrome? What neurological manifestations can be seen in this disorder?

A

Tuberous sclerosis (autosomal dominant). Seizures/infantile spasms.

68
Q

Name the disorder: notable verbal delay, hand-flapping (easily excitable), tremulous movements of the limbs/ataxia, inappropriately laughing/happy, mouth open with frequent drooling and thrusting of tongue. What chromosome is affected?

A 
Angelman Syndrome (chromosome 15). 
Paternal imprinting, loss of maternal gene (daddy's girl-- although can be seen in both boys and girls).
69
Q

Name the disorder: axillary freckling, seizure disorder, T2-weighted brain MRI showing multiple bright spots along brainstem/basal ganglia/cerebellum, multiple hamartomas noted on the iris, cortical thinning of long bones

A

Neurofibromatosis (autosomal dominant)

Multiple hamartomas– lisch nodules

70
Q

What does WAGR stand for?

A

Wilms Tumor
Aniridia
Genitourinary anomalies
Retardation (reduced intellectual abilities)

71
Q

Name the disorder: before age of 2 years old, irritable infant with tender bones–especially mandible. Radiography reveals hyperostosis of cortical bone.

A

Caffey syndrome (infantile cortical hyperostosis).
Autosomal dominant with incomplete penetrance.
Usually involves mandible, but can involve any bone.
Usually resolves by age 2 years old.

72
Q

Name the associated disorder: dome-shaped yellowish brown papules that project from the iris.

A

Lisch nodules (neurofibromatosis).

73
Q

Name the disorder: prominent forehead, pointed chin, direct hyperbilirubinemia with paucity of bile ducts, hepatomegaly, butterfly vertebrae

A

Alagille syndrome

74
Q

Name the disorder: puffy eyes, full or wide mouth, cocktail party personality.

A

Williams syndrome

75
Q

Name the disorder: FTT, long eyelashes, micrognathia, downward turn upper lip, unibrow, hirsuitism

A

Cornelia de Lange syndrome

76
Q

Name the syndrome: neonate who presents with hypocalcemic seizures.

A

DiGeorge syndrome

77
Q

Name the syndrome: neonate with intracranial hemorrhage, thrombocytopenia and absent radius.

A

TAR (thrombocytopenia with absent radius) syndrome

78
Q

There is a 5-15x increased risk of Celiac disease in patients with what genetic disorder?

A

Down’s Syndrome

79
Q

Pseudarthrosis/cortical long bone thinning leading to anterolateral bowing of the tibia with pathologic fractures or sphenoid dysplasia is associated with what disorder?

A

Neurofibromatosis

80
Q

What is transient leukemia?

A

Leukemia where blast cell population in the blood exceeds that in the bone marrow, seen in Down’s syndrome. Usually resolves within 3 months or so without intervention. Although increased risk for AML in the future.

81
Q

Name the disorder: doughy consistency skin, poor wound healing, mitral valve prolapse, easy bruising.

A

Ehlers-Danlos syndrome.

82
Q

What is Stickler syndrome?

A

A group of genetic disorders that affects connective tissue. Tends to be associated with Pierre-Robin sequence.

Pediatric Boards (19 decks)

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