Genetic/Chromosomal Disorders Flashcards

1
Q

What is the definition of chromosomal/genetic abnormalities?

A

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material

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2
Q

What factors predispose to chromosome disorders?

A

maternal age >35 years
Hx. previous chromosomal disorder
parent has balanced translocation
diagnosis of foetal abnormality suggestive of chromosomal disorders

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3
Q

What are the indications for chromosome analysis?

A

Hx. recurrent spontaneous abortions
Hx. Stillbirth
Hx. previous child with certain physical/chromosomal abnormalities
neonate with at least two dysmorphic features

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4
Q

What are the six stages of the 1st examination of the neonate?

A

consent
preparation
observation
examination
explanation
documentation

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5
Q

What are the classifications of chromosomal abnormalities?

A

numerical
structural
mosaicism

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6
Q

What is trisomy 21?

A

Down’s Syndrome

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7
Q

What is trisomy 18?

A

Edward’s Syndrome

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8
Q

What is trisomy 13?

A

Patau Syndrome

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9
Q

What’s also known as “Ullrich-Turner syndrome”

A

Turners Syndrome

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10
Q

What types of inherited single gene disorders are there?

A

autosomal dominant
autosomal recessive
sex chromosome disorders

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11
Q

What are sex chromosome disorders?

A

X-linked recessive

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