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Pediatric Boards > Genetics > Flashcards

Genetics Flashcards

1
Q

Pregnancy screening for Down syndrome?

A

low AFP, low estriol, high HCG, high inhibin

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2
Q

What is brachydactyly?

A

Short, broad fingers and toes

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3
Q

Anticipatory guidance for Down syndrome (6)?

A

1) Echo in newborn period
2) Ophthalmology before 6 months
3) Hearing eval before 6 months
4) TSH/FT4 at 3, 6, 12 months, then annually
5) Vision screening at 4 years
6) All immunizations

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4
Q

Future risk of Trisomy 21?

A

If Mom <35yo, risk is 1% (different if Downs is due to translocation or mosaicism)

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5
Q

Characteristic Edwards syndrome (Trisomy 18) (6)?

A

1) IUGR
2) MR
3) Rocker bottom feet
4) Clubfoot/clenched fist with overlapping fingers
5) CHD–most often VSD with dysplastic valves
6) Microcephaly

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6
Q

Mortality in Edwards?

A

50% by 1 week of age, 40% by 1 year of age (usually due to central apnea)

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7
Q

Characteristic findings in Patau syndrome (Trisomy 13) (8)? (Think midline!)

A

1) Cleft lip
2) Post-axial polydactyly
3) Holoprosencephaly
4) CHD
5) Hypoplastic or absent ribs
6) Genital abnormalities
7) Abdominal wall defects
8) Cutis aplasia

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8
Q

Mortality in Patau?

A

80% die within 1st month (median survivial is 2.5 days)

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9
Q

Characteristic findings in mosaic Trisomy 8?

A

Deep palmar and sole creases

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10
Q

Characteristic findings in Wolf-Hischhorn syndrome (4p-) (6)?

A

1) “Greek helmet” facies (ocular hypertelorism, prominent glabella, frontal bossing)
2) Growth deficiency
3) Beaked nose
4) Hypotonia
5) CHD (50%)
6) Seizures (90%)

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11
Q

Characteristic findings in Cri-du-chat (5p-) (6)?

A

1) “Cat’s cry” (due to anatomic change in larynx)
2) Telecanthus (decreased medial palpebrus distance)
3) Hypotonia
4) Short stature
5) MR
6) CHD (33%)

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12
Q

Characteristic findings in De Grouchy syndrome (18q-) (5)?

A

1) Atretic or narrowed ear canals (classic!)
2) Microcephaly
3) Developmental delay
4) “Frog-like” leg position
5) MR

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13
Q

Characteristic finds of Prader Willi syndrome (paternally derived 15q11-13) (6)?

A

1) Severe hypotonia
2) Obesity after newborn FTT
3) Short stature
4) Small hands and feet
5) Hypogonadism
6) Mild MR

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14
Q

Characteristic finds of Angelman syndrome (maternally derived 15q11-13) (6)?

A

1) Jerky ataxic movements (“happy puppet”)
2) Hypotonia
3) Seizures
4) Inappropriate bouts of laughter
5) Severe MR
6) Absent or severely delayed speech

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15
Q

Characteristic findings in Williams syndrome (7q11.23-) (6)?

A

1) Friendly “cocktail party” personality
2) Stellate pattern of iris
3) Strabismus
4) Supravalvular aortic stenosis
5) MR
6) Hypercalcemia

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16
Q

Characteristic findings in WAGR syndrome (11p13-) (5)?

A

1) Wilms tumor (up to 50%, usually by 3yo)
2) Aniridia
3) Male GU abnormalities (hypospadias, cryptorchidism, micropenis, hypoplastic scrotum)
4) MR
5) Also, possible gonadoblastoma

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17
Q

Characteristic findings in Alagille syndrome (20p12-) (6)?

A

1) AD inheritance
2) Bile duct paucity with cholestasis
3) PV stenosis and peripheral artery stenoses
4) Posterior embryotoxon
5) Skeletal defects (butterfly vertebrae)
6) Triangular facies

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18
Q

How soon does symptomatic cholestasis occur in Alagille syndrome?

A

In the first 3 months of life

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19
Q

Most common cardiac manifestations in Alagille syndrome?

A

Peripheral and branch PS (67%) and tetralogy (7-16%)

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20
Q

Characteristic findings in 22q11.2- syndrome (6)?

A

1) Cleft palate
2) Thymic aplasia/hypoplasia (immune deficiency)
3) Parathyroid gland aplasia/hypoplasia (hypocalcemia)
4) CHD (tet>interrupted arch>VSD>truncus)
5) Short stature
6) Behavioral problems

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21
Q

Heart defect in Turner syndrome?

A

Coarctation of the aorta; bicuspid aortic valve

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22
Q

Inheritance and gene involved in achondroplasia?

A

AD; FGFR3 on chromosome 4p16.3

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23
Q

Other keys with achondroplasia (2)?

A

1) Foramen magnum stenosis

2) Usually new mutation; rate increases with increasing paternal age

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24
Q

Mode of inheritance for all osteogenesis imperfecta?

A

AD (affecting collagen)

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25
Q

Characteristics of type I OI?

A

Mildest form–blue sclerae, delayed fontanelle closure, hyperextensibility, hearing loss, normal stature, multiple fractures (rare birth fractures)

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26
Q

Defect in type I OI?

A

Decreased Type 1 collagen

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27
Q

Characteristics of type II OI?

A

Most severe form–newborn death due to respiratory insufficiency

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28
Q

Defect in type II OI?

A

Disrupted collagen formation

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29
Q

Characteristics of type III OI?

A

Newborn fractures, short stature, difficulty ambulating, neuro complications (hydrocephalus, basilar skull invagination)

30
Q

Characteristics of type IV OI?

A

Milder form, white sclerae, delayed fontanelle closure, birth fractures, short stature, tibial bowing

31
Q

Mode of inheritance for Marfan syndrome?

A

AD

32
Q

Most common cause of death in Marfan’s?

A

Cardiac–aortic root dilation and rupture

33
Q

Direction of lens dislocation in Marfan’s?

A

Up and out

34
Q

Direction of lens dislocation in homocystinuria?

A

Down and in

35
Q

Defect in Marfan’s?

A

Fibrillin gene (FBN1)

36
Q

Mode of inheritance for Ehlers-Danlos?

A

AD

37
Q

Characteristic features of Ehlers-Danlos?

A

Hyperextensible skin, hypermobile joints, easy bruising/bleeding, dystrophic scarring

38
Q

Cardiac problems with Ehlers-Danlos?

A

MVP and aortic root dilation (like Marfan’s)

39
Q

Diagnostic criteria for NF-1 (need 2/7)?

A

1) >6 CAL spots >0.5cm before puberty or >1.5cm after puberty
2) >2 neurofibromas of any type or 1 plexiform neurofibroma
3) Axillary or inguinal freckling
4) Optic glioma
5) >2 Lisch nodules (iris hamartomas)
6) Sphenoid dysplasia or thinning of long bone cortex
7) 1st degree relative with NF-1

40
Q

Mode of inheritance of NF-1?

A

AD (but 60% of cases are de novo; also with wide phenotypic expression, even in 1 family)

41
Q

Mode of inheritance for NF-2?

A

AD

42
Q

Diagnostic criteria for NF-2?

A

1) Bilateral acoustic neuromas, OR

2) 1st degree relative with NF-2 AND either unilateral acoustic neuroma, 2 of other CNS tumors, or lens opacity

43
Q

What percent of plexiform neurofibromas (NF-1) can become malignant peripheral nerve sheath tumors?

A

10%

44
Q

Other CNS tumors in NF-2?

A

Meningiomas, spinal schwannomas, cranial nerve schwannomas, ependymoma

45
Q

Effects of acoustic neuromas?

A

Hearing loss, tinnitus, imbalance, facial weakness

46
Q

Mode of inheritance of tuberous sclerosis?

A

AD (wide phenotypic variability even within 1 family)

47
Q

Characteristics of TS?

A

1) “Ash leaf” hypopigmented macules (enhance with Wood’s lamp)
2) Shagreen patches (oval nevoid plaques)
3) Facial angiofibromas
4) Forehead plaques
5) Ungual and gingival fibromas
6) PCKD (with TSC2)

48
Q

Other complications of TS?

A

1) Infantile spasms (50% of kids with IS will have TS)

2) Cardiac rhabdomyomas (multiple!)–may regress over time

49
Q

Mode of inheritance for von Hippel-Lindau syndrome?

A

AD (VHL tumor suppressor gene; highly penetrant)

50
Q

Diagnostic criteria for vHL?

A

1) 2 or more hemangioblastomas in CNS (usually cerebellum) or retina, OR
2) 1 hemagngioblastoma with either pheochromocytoma, endolymphatic sac tumors, kidney/pancreas cysts, RCC, neuroendocrine tumors of pancreas, OR
3) 1st degree relative and 1 of above

51
Q

Teratogens–thalidomide?

A

Days 34-50–limb defects and ear malformations

52
Q

Teratogens–carbamazepine?

A

Days 15-29–spina bifida

53
Q

Teratogens–MTX?

A

Weeks 6-9 at >10mg/week–craniosynostosis, craniofacial abnormalities, and limb defects

54
Q

Teratogens–ACE inhibitors?

A

2nd & 3rd trimesters–renal dysgenesis, oligo, skull ossification defects

55
Q

Teratogens–diethylstilbestrol?

A

Before 12 weeks–vaginal adenocarcinoma in offspring of fetus

56
Q

Teratogens–lithium?

A

Before 8 weeks–Ebstein anomaly

57
Q

Teratogens–phenytoin?

A

During 1st trimester–fetal hydantoin syndrome (growth deficiencies, DD, craniofacial anomalies, hypoplastic phalanges/nails) or vitamin K deficiency

58
Q

Teratogens–retinoic acid?

A

Weeks 2-5–DiGeorge-like features, microcephaly, facial nerve palsies, microtia/EAC anomalies, CV defects, thymic hypoplasia, GU anomalies

59
Q

Teratogens–streptomycin?

A

3rd trimester–hearing loss

60
Q

Teratogens–tetracycline?

A

After 20 weeks–bone and tooth staining

61
Q

Teratogens–valproic acid?

A

1st 30 days–spina bifida; 1st trimester–craniofacial abnormalities, preaxial defects

62
Q

Teratogens–warfarin?

A

Weeks 6-9–fetal warfarin syndrome (nasal hypoplasia and stippled epiphyses), CNS effects, or spontaneous abortion

63
Q

Maternal exposure–alcohol?

A

Fetal alcohol syndrome–facial defects, growth deficiency, cognitive abnormalities (most frequently documented cause of MR)

64
Q

Maternal exposure–cocaine?

A

Increased risk of miscarriage, stillbirth, premature delivery, fetal ICH

65
Q

Maternal exposure–cigarettes?

A

Low birth weight; if heavy, miscarriage, prematurity, stillbirth

66
Q

Maternal exposure–mercury (fish)?

A

Cerebral atrophy, seizures, DD

67
Q

Maternal diseases–diabetes?

A

Sacral agenesis, holoprosencephaly, congenital heart defects (glucose control is vital!)

68
Q

Maternal diseases–HTN?

A

Before 20 weeks–miscarrage; after 20 weeks–IUGR, placental insufficiency, placental abruption or previa

69
Q

Maternal diseases–hyperthermia (hot tubs and fevers)?

A

Days 14-30–neural tube defects (if extensive and prolonged)

70
Q

Maternal diseases–SLE?

A

Before 20 weeks–miscarriage; after 20 weeks–stillbirth, prematurity, congenital heart block

Pediatric Boards (12 decks)

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