CHROMOSOMAL DISORDER Flashcards

1
Q

Patau syndrome

A

Trisomy 13 Syndrome

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2
Q

is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body.

A

Trisomy 13 Syndrome

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3
Q

Edwards syndrome

A

Trisomy 18 Syndrome

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4
Q

is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with ___________ often have slow growth before birth (intrauterine growth retardation) and a low birth weight.

A

Trisomy 18 Syndrome

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5
Q

5p- syndrome and cat cry syndrome

A

Cri-du-Chat Syndrome

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6
Q

is a rare genetic condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the p arm) of chromosome 5.

A

Cri-du-Chat Syndrome

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7
Q

is a chromosomal condition related to the X chromosome that alters development in females, though it is not usually inherited in families.

A

Turner Syndrome

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8
Q

XXY condition

A

Klinefelter Syndrome

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9
Q

is a term used to describe males who have an extra X chromosome in most of their cells.

A

Klinefelter Syndrome

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10
Q

is a genetic disorder characterized by mild-to-moderate intellectual disability.

A

Fragile X Syndrome (FXS)

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11
Q

trisomy 21

A

Down Syndrome

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12
Q

is a common genetic disorder that occurs when a person has three copies of chromosome 21

A

Down Syndrome

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