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Pediatrics > Genetics > Flashcards

Genetics Flashcards

1
Q

Trisomy 21

A

Down Syndrome

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2
Q

most common form of aneuploidy

A

Trisomy

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3
Q

Trisomy 18

A

Edward Syndrome

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4
Q

Trisomy 13

A

Patau Syndrome

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5
Q

most common cause of hypogonadism and infertility in males; most common sex chromosome aneuploidy in humans

A

Klinefelter Syndrome

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6
Q

IEM which cause sweaty feet/“rancid cheese” odor of urine

A

isovaleric acidemia

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7
Q

IEM which produces mousey or musty urine odor

A

Phenylketonuria

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8
Q

IEM which produces rotten fish urine odor

A

Trimethylaminuria/Dimethylglycine dehydrogenase deficiency

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9
Q

IEM which cause boiled cabbage/rancid butter

A

Tyrosinemia type 1 // Hypermethioninemia

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10
Q

mainstay treatment of Phenylketonuria

A

low-phenyalalanine diet

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11
Q

current recommendation for blood phenylalanine level to be maintained

A

2-6 mg/dL throughout life

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12
Q

impaired synthesis and distribution of this pigment causes Albinism

A

Melanin

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13
Q

deficiency of BCKDH (Branched chain a ketoacid dehydrogenase) complex results to this IEM

A

Maple Syrup Urine Disease

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14
Q

Enzyme defect: alpha galactosidase

A

Fabry disease

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15
Q

enzyme defect: ceramidase

A

Farber disease

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16
Q

enzyme defect: beta hexosaminidase A

A

Tay-Sachs disease

17
Q

enzyme defect: beta hexosaminidase B

A

Sandhoff disease

18
Q

enzyme defect: glucocerebrosidase

A

gaucher disease

19
Q

enzyme defect: sphingomyelinase

A

Niemann-Pick Disease

20
Q

enzyme defect: beta galactocerebrosidase

A

Krabbe disease

21
Q

rare fatal autosomal dominant segmental premature aging disease

A

Hutchinson-Gilford Progeria Syndrome (Progeria)

22
Q

what happens in children with progeria

A

they develop premature progressive atherosclerosis, usually die of heart failure

Pediatrics (17 decks)

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