Diagnosis of genetic disorders Flashcards

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1
Q

microdeletions

A

Fluoresence insito hibridisation

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2
Q

to detect inborn errors of metabolism

A

Amino acid analysis

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3
Q

Hypothyroidism

A

Neonatal & prenatal screening program

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4
Q

quick diagnosis of aneuploidy syndromes, translocations

A

Fluoresence insito hibridisation

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5
Q

To select sex of baby

A

Preimplantation genetic diagnosis (PGD)

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6
Q

Neural tube defect

A

Neonatal & prenatal screening program

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7
Q

Phenylketonurea

A

Neonatal & prenatal screening program

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8
Q

to test embryos in vitro fertilization for certain genetic disorders, & only healthy embryos are returned to uterus

A

Preimplantation genetic diagnosis (PGD)

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9
Q

Down syndrome

A

Neonatal & prenatal screening program

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