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Pediatrics > Genetics > Flashcards

Genetics Flashcards

0
Q

45 X

A

Turner Syndrome

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1
Q

Macroglossia, gigantism, neonatal hypoglycemia, flamus nevus of face

A

Beckwith Wiedeman

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2
Q

47 XXY

A

Klinefelter

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3
Q

47 + 21

A

Down Syndrome

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4
Q

47 +18

A

Edwards Syndrome

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5
Q

47 +13

A

Patau Syndrome

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6
Q

Brush field spots, single palmar crease, CHD, duodenal atresia, leukemia, Hirschsprungs, MR

A

Down Syndrome

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7
Q

Fatal in first yr of life, FTT, hypertonia, rocker bottom feet, overlapping fingers

A

Trisomy 18, Edwards

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8
Q

Caused by nondisjunction in meiosis

A

Trisomy 21, Trisomy 18

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9
Q

Death by 1 year, microphthalmia, cleft lip/plate, cutis aplasia, VSD or other CHD, holoprosencephaly, also can get rocker bottom feet

A

Trisomy 13, Patau

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10
Q

20% due to unbalanced translocation

A

Trisomy 13

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11
Q

Nuchal webbing, puffy hands and feet (pedal edema), coarctation of aorta or bicuspid aortic valve, short stature, infertility.

A

Turner Syndrome

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12
Q

Risk is not related to maternal age

A

Turner syndrome

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13
Q

Tall stature, small testes, infertile, gynocomastia, learning or behavior problems,

A

Klinefelter Syndrome

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14
Q

DiGeorge and Velocardialfacial Syndrome

A

22q Microdeletion Syndrome

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15
Q 
Cardiac defects (conotruncal)
Abnormal facies
T-cell deficit
Cleft palate
Hypocalcemia
A

DiGeorge (CATCH 22)

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16
Q

CHD, learning difficulties, cleft palate, tubular nose, thymus hypoplasia, calcium issues

A

22q

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17
Q

5p-

A

Cri-du-chat

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18
Q

Microcephalic, high palate, hyperteloric, epicanthal folds, low broad nose, cat cry

A

5p-

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19
Q

4p-

A

Wolf Hirschhorn

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20
Q

Greek helmet facies, growth retardation, microcephaly, mental defect, closure defects (cleft lip/palate, cardiac septal defects, coloboma of eye)

A

4p- Wolf Hirschhorn

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21
Q

Wilms tumor
Aniridia
GU anomalies
MR

A

WAGR (AD or somatic mutation)

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22
Q

50% risk for offspring of affected person, male to make transmission, every generation affected

A

AD

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23
Q

Mode of inheritance: Marfan Syndrome

A

AD

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24
Q

Mode of inheritance: Homocystinuria

A

AR

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25
Q

Aortic dilitation/dissection or MVP

A

Marfan’s

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26
Q

Mode of inheritance: Alagille

A

AD

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27
Q

Paucity of bile ducts, peripheral pulmonic stenosis, butterfly vertebrae, pointed chin, triangular face, bulbous tip of nose

A

Alagille

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28
Q

Mode of inheritance: Achondroplasia

A

AD. 80% are new mutations

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29
Q

Short stature (normal trunk, short limbs), large head,

A

Achondroplasia

30
Q

Mode of inheritance: CHARGE

A

AD. Generally sporadic

31
Q

Ear anomalies, growth or mental retardation, heart defects, coloboma/CNS disease, choanal atresia/stenosis, genital/urinary anomalies

A

CHARGE

32
Q

Mode of inheritance: Osteogenesis Imperfecta

A

AD

33
Q

Osteopenia, short stature, multiple fractures, scleral hue changes, dental anomalies, hearing loss

A

OI

34
Q

Has mutation in sperm or egg only (not all body cells), unaffected themselves but high likelihood of passing mutation on

A

Germaine mosaicism

35
Q

An unaffected sibling has a 2/3 chance of being a carrier

A

AR

36
Q

Mode of inheritance: CF

A

AR

37
Q

Mode of inheritance: Sickle Cell

A

AR

38
Q

Mode of inheritance: Thalassemia

A

AR

39
Q

No male to male transmission, all daughters of affected males are obligate carriers, carrier females have 50% chance of passing disease to son

A

X linked

40
Q

Mode of inheritance: Duchenne Muscular Dystrophy

A

X linked

41
Q

Mode of inheritance: Incontinentia Pigmenti

A

X linked dominant

42
Q

Nail dysplasia, cataracts, delayed eruption of teeth, peg shaped teeth, blistering rash

A

Incontinentia Pigmenti

43
Q

Mode of inheritance: Glucose-6-Phosphate Dehydrogenase

A

X linked recessive

44
Q

Hemolytic anemia when exposed to antimalarials, fava beans

A

G6PD

45
Q

Mode of inheritance: Rett Syndrome

A

X linked dominant

46
Q

Mode of inheritance: Alport Syndrome

A

X linked

47
Q

Mode of inheritance: Aicardi Syndrome

A

X linked

48
Q

MECP2 gene

A

Rett Syndrome

49
Q

Normal development then microcephaly, hand wringing, seizures, breath holding and air swallowing, autistic features

A

Rett Syndrome

50
Q

Kidney failure, deafness, abnormal eye exam

A

Alport Syndrome

51
Q

Women have less severe kidney disease then men

A

Alport syndrome

52
Q

Agenesis of corpus callosum, chorioretinal lacunae, infantile spasms, lethal in males

A

Aicardi Syndrome

53
Q

Results from deletion of chromosome 15 from paternal genes

A

Prader Willi

54
Q

Results from deletion of chromosome 15 from maternal genes

A

Angelman Syndrome

55
Q

MR, ataxic, jerky arm movements (happy puppet), seizures, inappropriate laughter, maxillary hypoplasia, blond hair, blue eyes, fair skin

A

Angelman Syndrome

56
Q

Hypotonia, FTT as infant, obesity as child, small hands and feet, hypogonadism, short stature, learning problems

A

Prader-Willi

57
Q

Mode of Inheritance: Beckwith-Wiedemann Syndrome

A

AD or imprinting

58
Q

Macroglossia, hemihypertrophy, omphalocele, hypoglycemia, risk for Wilms tumor or hepatoblastoma

A

Beckwith-Wiedemann

59
Q

Most common inherited form of MR

A

Fragile X

60
Q

Trinucleotide repeat

A

Fragile X

61
Q

MR, large ears, tall stature, large head, hands, and feet, macroorchidism after puberty

A

Fragile X

62
Q

Microcephaly, smooth philtrum, short palpebral fissures, growth deficiency, developmental delay

A

Fetal alcohol syndrome

63
Q

Microcephaly, heart defects, cleft lip, short upturned nose, depressed nasal bridge, nail hypoplasia

A

Fetal Hydantoin (Dilantin) Syndrome

64
Q

Risk to fetus is greatest if this virus is contracted at less than 20 weeks gestation

A

Varicella

65
Q

Limb hypoplasia, eye damage, developmental delay, circatrical scarring

A

Fetal Varicella Syndrome

66
Q

Mode of Inheritance: Cornelia de Lange

A

AD (most are new mutation)

67
Q

Poor growth, limb abnormalities, short nose with anteverted nares, long eyelashes, microcephaly, long philtrum, MR, reflux, heart defects

A

Cornelia De Lange

68
Q

FTT, small height and weight, NORMAL head circumference, triangular face, hemihypertrophy, cafe au lait, delayed bone age, reflux

A

Russell-Silver

69
Q

Mode of Inheritance: Noonan Syndrome

A

AD

70
Q

Hypertelorism, low set ears, down slanting palpebral fissures, webbed neck, cryptorchidism, congenital heart disease including PULMONARY VALVE dysplasia

A

Noonan Syndrome

71
Q

Chromosome 7q11 Microdeletion

A

Williams Syndrome (dx with FISH)

72
Q

Short stature, short nose, puffy eyelids, full mouth, MR, cocktail party personality (loquacious), SUPRAVALVULAR AORTIC STENOSIS

A

Williams Syndrome

Pediatrics (20 decks)

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