karyotypes Flashcards

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1
Q

46XX

A

1

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2
Q

46XY

A

0

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3
Q

45X

A

Turner syndrome 0

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4
Q

47XXX

A

triplo-X2

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5
Q

48XXXX

A

tetra-X3

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6
Q

47XXY

A

Kleinfelter syndrome 1

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7
Q

48XXYY

A

Kleinfelter syndrome 1

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8
Q

48XXXY

A

Kleinfelter syndrome 2

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9
Q

47XYY

A

XYY0

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10
Q

most frequent case of chromosomal aneuploidies

A

nondisjunction

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11
Q

where do robertsonian translocations take place?

A

on chromosomes 13,14,15,21,22

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12
Q

robertsonian translocation

A

chromosome becomes attached end-to-end with another

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13
Q

what syndrome is caused by Robertsonian translocations?

A

familial down syndrome

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14
Q

trisomy 13 syndrome

A

Patau

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15
Q

trisomy 8 syndrome

A

warkany syndrome

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16
Q

trisomy 12 syndrome

A

chronic lymphocytic leukaemia

17
Q

trisomy 18 syndrome

A

Edward’s syndrome