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FD BLOCK > 12. Karyotyping > Flashcards

12. Karyotyping Flashcards

1
Q
A

Trisomy 21

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2
Q
A

Trisomy 18

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3
Q
A

Trisomy 13

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4
Q
A

Turner’s Syndrome

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5
Q
A

Fanconi’s Anaemia

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6
Q

reciprocal translocation

A

segments from two different chromosomes have been exchanged

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7
Q

Robertsonian translocation

A

an entire chromosome has attached to another at the centromere; (only chromosomes 13, 14, 15, 21 and 22).

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8
Q

Rings

A

a portion of a chromosome has broken off and formed a circle or ring

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9
Q

Isochromosome

A

a mirror image copy of a chromosome segment including the centromere

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10
Q

Interstitial deletion

A

DNA lost from middle of chromosome

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11
Q

Terminal deletion

A

DNA lost from end of chromosome

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12
Q
A

Cri du chat syndrome

Severe mental development problems

small head

unusual facial features

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13
Q

Fanconi’s Anaemia

A

Increased pigmentation

Bone marrow failure

Increased risk of neoplasia

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14
Q

Numerical sex chromosome abnormalities

A

Minimal effect on survival of foetus

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15
Q

Balanced translocations

A

Usually no phenotypic effect

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16
Q

Unbalanced autosomal translocations

A

Multiple congenital malformations

17
Q

Polyploidy

A

Commonly caused by fertilisation of the same egg by two or more sperm

18
Q
19
Q
20
Q

Non-dysjunction

A

Failure of separation of homologous chromosome pairs

Both pairs migrate together to one pole

Autosomal trisomies - most common outcome

21
Q

Trisomy 13

22
Q

Trisomy 18

A

Edward’s

23
Q
A

Patau’s

Severe mental development problems

Cardiac abnormalities

Cleft lip

Polydactyly

24
Q
A

Edward’s

cardiac and renal defects

Club foot / rocker bottom feet

Small low set ears

Tightly clenched hand

25
Q
A

Turner’s Syndrome

short stature

neck webbing

Cardiovascular abnormalities

26
Q
A

Klinefelter Syndrome

Hypogonadism

Gynaecomastia

FD BLOCK (18 decks)

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