Pathology Quiz 4

Pathology Quiz 4 / Pittsburgh Institute of Mortuary Science / Exam date: 02/24/25

Chromosomal abnormalities

Occur when part of an individual chromosome is deleted (missing a piece), was translocated (moved to another chromosome), duplicated (has an extra piece), or inverted (flipped upside down)

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

Spina bifida

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

Can happen anywhere alone the spine if the neural tube does not close all the way

When the neural tube doesn't close all the way, the backbone that protects the spinal cord doesn't form or close as it should

Hypoplasia

Underdevelopment of a tissue, organ, or body part

Apleasia

Failure of a tissue or organ to develop normally

Polydactylism

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

Phocomelia

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

Amelia

Congenital absence of one or more limbs

Cleft palate/lip

Congenitally malformed palate with a fissure alone the midline

Color blindness

A deficiency is the way one sees color

Difficulty distinguishing certain colors, such as blue and yellow or red and green

Vascular nevis

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

Downs syndrome

Trisomy 21

A genetic disorder caused by the presence of all or part of a third cody of chromosome 21

Typically associated with physical growth delays, mild to moderate intellectual disability and characteristic facial features

Congenital hernia

Abnormal protrusion of part of an organ or tissue on organ pushes through an opening in the muscle or tissue that holds it in place