Pathology

Front 1

an inactive X chromosomes that can be seen in the interphasee nucleus as a darkly staining small mass in contact with nuclear membrane is

Back 1

Barr Body

Front 2

Diploid

Back 2

having two sets of chromosomes

Front 3

Haploid

Back 3

possessing half the diploid or normal number of chromosomes foun din somatic or body cells

Front 4

Aneuploid

Back 4

error in meiosis or mitosis in which a cell aquires a chromosomes complemenent that is not an exact multiple of 23

Front 5

Euploid

Back 5

any exact multiple of hte haploid number

Front 6

what is mosaicism?

Back 6

mitotic errors in early development that give rise to two or more populations of cells in the same individual

Front 7

translocation

Back 7

a segment of one chromosome is transferred to another

Front 8

inversion

Back 8

refers to a rearrangement that involves two breaks within a single

Front 9

chromosome

Back 9

with inverted reincorporation of the segment

Front 10

deletion

Back 10

refers to a loss of a portion of a chromosome

Front 11

the most common of the chromosomal disorders and a major cause of mental retardation is

Back 11

trisomy 21 or Down Syndrome

Front 12

a female child with short stature webbing of hte neck streak ovaries widely spread niupples and coarctation of the aorta

Back 12

45X or Turner Syndrome

Front 13

Klinefelter Syndrome

Back 13

Klinefelter syndrome is male hypogonadism that occurs when there are two or more X chromosomes and one or more of the Y chromosomes

Front 14

Hermaphroditism

Back 14

implies the presence of both ovarian and testicular tissue

Front 15

pseudohermaphrodite

Back 15

represents a disagreement between the phenotypic and gonadal sex

Front 16

Marfan Syndrome

Back 16

disorder of connective tissue of the body manifested principally by changes in the skeleton eyes and cardiovascular system

Front 17

Cafe au lait

Back 17

cutaneous pigmentation and macules are associated with neurobribormatosis

Front 18

Niemann-Pick Disease

Back 18

characterized by lysomomal accumulation of sphinogomyelin resulitng from of inherited deficiency of sphingomyelinase

Front 19

Gaucher Disease

Back 19

autosomal recessive disorder resulting from mutation in the gene encoding glucocerebrosidase it is the most common lysomsal storage disorder