Cytogenetics FInals

A labeled piece of DNA that binds to its complementary base sequence on a particular chromosome.

Which is cannot be examined in karyotyping?

A doctor removes a small sample of fetal cells and fluids from the uterus with a needle passed through the woman's abdominal wall.

Which cell cycle can be karyotyped?

Are finger like structure that develop into placenta.

CVS is slightly less accurate than amniocentesis and in about 1 in 1,000 to 3,000 procedures.

Separates fetal cells from maternal blood by identifying surface characteristics that differ from those on woman's cells

Used to arrest cells during division.

Also called XO syndrome, a female with only one X chromosome

Also called XXY syndrome. A male with an extra X chromosome

More precise staining because it uses DNA probes that are complementary to specific DNA sequences.

A SCHEMATIC CHROMOSOME MAP. IT INDICATES CHROMOSOME ARM ( P OR Q) AND MA JOR REGIONS DELINEATED BY BANDING PATTERNS.

A normal human male has only one Barr body per somatic cell, while a normal human female has none.

Where there are more than two sets of homologous chromosomes in the cells

Is the number of complete sets of chromosomes in a cell.

Occurs when in adult differentiated tissues the cells have ceased to divide by mitosis, but the nuclei contain more than the original somatic number of chromosomes.

The condition in which the chromosome number in the cells is not the typical number for the species.

Some individuals possess one or more complete genomes in a cell which may be identical with or distinct from each other.

obtained with Giemsa stain following digestion of chromosomes with trypsin.

The dark regions are euchromatic (guanine-cytosine rich regions) and the bright regions are heterochromatic (thymine-adenine rich regions).

Giemsa binds to constitutive heterochromatin so it stains centromeres.

A fluorescent pattern obtained using quinacrine for staining.

Stain for T-Banding

A molecular cytogenetic technique used to simultaneously visualize all the pairs of chromosomes in an organism in different colors.

A technique used to quantify the DNA copy number on a genomic scale

Matching Type

The meiotic error that causes aneuploidy is called

Which is caused by partial deletion of the short arm of chromosome 4

Terminal 11q deletion disorder

Philadelphia 22

Deficiency in chromosome no. 5

Chromosome breaks an A single break near the end of the chromosome.

Chromosome breaks and reunites but the part is lost from in between

Caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17.

Segments from two different chromosomes have been exchanged.

Entire chromosome has attached to another at the centromere

A rare type of translocation

The inverted segment does not include centromere

Formed by the mirror image copy of a chromosome segment including the centromere

SRY gene deficient

Means that the DNA sequences have counterparts on the X chromosome and can cross over with them.

Is an older and more general term for an individual with both male and female sexual structures.

Individuals whose internal structures are inconsistent with external structures, or whose genitalia are ambiguous.

An enzyme deficiency blocks removal of cholesterol from skin cells. The upper skin layer cannot peel off as it normally does, appearing brown and scaly

N affected females, swirls of skin pigment arise when melanin penetrates the deeper skin layers.

Produces many extra hair follicles, and hence denser and more abundant upper body hair

Trisomy 13

Trisomy 18

Gonadal dysgenesis

A segment of the long arm of chromosome 15 missing; a deletion of the paternal genes.