Mrs Jones' First Consultation Flashcards

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1
Q

List the 7 types of congenital abnormalities and birth defects.

A
Malformation 
Disruption 
Dysplasia 
Sequence
 Association 
Deformation 
Syndrome
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2
Q

Define dysplasia

A

Abnormal organisation of cells into tissue

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3
Q

What is the most common cause of Sequence e.g. Potter Sequence?

A

Oligohydramnios – reduced supply of amniotic fluid

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4
Q

What are the 3 types of chromosome?

A

Metacentric
Submetacentric
Acrocentric

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5
Q

Describe how chromosome banding works.

A

Starts at 11 at the centromere – different banding for different stains

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6
Q

What are the three different types of chromosomal abnormality?

A

Aneuploidy Structural Mosaicism

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7
Q

What is mosaicism?

A

The cells of an individual do not all contain identical chromosomes. There may be two or more genetically different populations of cells. E.g. one cell lineage will be Down Syndrome

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8
Q

What is the difference between a balanced and unbalanced translocation?

A

Unbalanced – there is a loss of genetic material

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9
Q

What could be the potential future issues for someone who has a balanced translocation?

A

Balanced translocations lead to the formation of quadravalents (rather than bivalents) during meiosis which can lead to strange exchanges in genetic material which can cause disease

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10
Q

List some clinical features of Down Syndrome

A

Excess nuchal skin, sleepy, severe hypotonia, Single palmar crease, sandal gap Upwards slanting eye folds, macroglossia, Short stature, Cardiac abnormalities – ASD and VSD

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11
Q

List three possible causes of Down syndrome.

A

Non-disjunction during meiosis I or meiosis II
Robertsonian translocation –2 acrocentric chromosomes break at the centromere and fuses to form a new chromosome
Mosaicism

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12
Q

Name two other trisomy disorders

A

13 – patau syndrome, 18 – Edwards

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13
Q

What is monosomy X in females and what are the clinical features?

A

Turner Syndrome – webbed neck, infertile, normal intelligence, low posterior hairline

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14
Q

What is polysomy X in males and what are the clinical features?

A

Kleinfelter’s syndrome – tall, gynaecomastia, infertile, learning disability

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15
Q

How can someone who has sex chromosomes XX be male?

A

Due to a translocation in which the sex determining region on the Y (SRY) has been translocated onto the X chromosome.

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16
Q

What are genomic disorders?

A

Disorders in which there is a gain or loss of DNA

17
Q

Give an examples of two genomic disorders

A

Deletion – Di George syndrome

Duplication – Charcot-Marie-Tooth Disease Type 1A