Structural abnormalities Flashcards

1
Q

Occur when part of an individual chromosome is deleted, was translocated, duplicated, or inverted

A

Structural abnormalities

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2
Q

Occur as an accident when the egg or the sperm is formed or during the early developmental stages of the fetus

A

Chromosomal abnomalities

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3
Q

Congenital defect in which part of the vertebral column is absent or there is incomplete closure

A

Spina bifida

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4
Q

Under development of a tissue, organ, or body part

A

Hypoplasia

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5
Q

Failure of a tissue or organ to develop normally

A

Aplasia

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6
Q

A congenital physical anomaly in humans and animals resulting in supernumerary fingers and/or toes

A

Polydactylism

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7
Q

A congenital condition in which the proximal portion of the limbs are poorly developed or absent

A

Phocomelia

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8
Q

Congenital absence of one or more limbs

A

Amelia

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9
Q

Congenitally malformed palate with a fissure along the midline

A

Cleft palate/ lip

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10
Q

A deficiency in the way one sees color. Difficulty distinguishing certain colors, such as blue and yellow or red and green

A

Color blindness

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11
Q

Malformed dilated blood vessels in the skin. Lesions are non-cancerous and appear as blotches of red or purple skin discoloration on any part of the body

A

Vascular nevis

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12
Q

A genetic disorder caused by the presence of all or part of a third copy of chromosome 21. Typically associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features
-Trisomy 21

A

Downs syndrome

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13
Q

Abnormal protrusion of part of a n organ or tissue. Organ pushes through an opening in the muscle or tissue that holds it in place

A

Congenital hernia

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