Genetics Flashcards

1
Q

Trisomy 21?

A

Down syndrome

Extra 21 chromosome

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2
Q

What health associations does Down syndrome have?

A

Learning disability
Congenital heart disease
Hypothyroidism
Early onset Alzheimer’s

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3
Q

What is looked at in the head for clues of genetic syndromes?

A

Shape
Size: macrocephaly or microcephaly
Ear position- low set, posteriorly rotated indicates lack of maturity

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4
Q

What is looked at in the eyes for clues of genetic syndromes?

A

Hypertelorism- eyes are too far apart from each other. Inner canthal distance (ICD) and inter-pupillary distance (IPD) both increased

Telecanthus/epicanthic folds- ICD and IPD increased

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5
Q

What is looked at in the hands for clues of genetic syndromes?

A

Finger length
Digital abnormalities
Palmar creases

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6
Q

Which genetic syndrome causes long, thin fingers?

A

Marfans syndrome

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7
Q

In which genetic syndrome would you see a single palmar crease?

A

Down syndrome

->but can occur in the general population too

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8
Q

What is looked at in the fingers for clues of genetic syndromes?

A

Arachnodactyly- low, slender fingers
Brachydactyly- short fat fingers

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9
Q

What is meant by polysyndactyly?

A

More toes or fingers that you should, with some being stuck together

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10
Q

What is one genetic mutation where polysyndactyly is a feature?

A

Hox D13

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11
Q

Features of Vater syndrome?

Hint use vater as an acronym

A

Vertebral anomalies
Ano-rectal atresia
Tracheo-oEsophageal fistula
Radial anomalies

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12
Q

Features of Turner syndrome?

A

Wide spaced nipples
Short stature
Coarctation of aorta
Primary amenorrhagia and infertility

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13
Q

List the features that 22q11 deletion is associated with.

A

Cleft palate
Abnormal facies
Thymic hypoplasia/immune deficiency
Heart problems

->children can lose food out of their noses

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14
Q
A
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