Cytogenetic Testing 🧬

Question 1

Karyotype

Answer 1

A karyotype is a display of an individual’s chromosomes arranged by size, shape, and number.

Question 2

Euploidy

Answer 2

Euploidy refers to having the normal set of chromosomes in a cell, which is typically two sets (diploidy) in humans.

Question 3

Aneuploidy

Answer 3

Aneuploidy is a condition where there is an abnormal number of chromosomes in a cell, either more or less than the typical diploid number.

Question 4

Non-disjunction

Answer 4

Non-disjunction is the failure of chromosomes to separate properly during cell division, leading to aneuploidy.

Question 5

Klinefelter

Answer 5

Genetic disorder with XXY chromosomes, leading to tall stature, gynecomastia, infertility, and female distribution of hair.

Question 6

Trisomy 21 (Down syndrome)

Answer 6

Condition with an extra chromosome 21, causing intellectual disability, short stature, heart defects, and changes similar to Alzheimer’s disease.

Question 7

Trisomy 18 (Edward syndrome)

Answer 7

Genetic disorder involving an extra chromosome 18, characterized by clenched fist, micrognathia, heart defects, and intellectual disability.

Question 8

Trisomy 13 (Patau syndrome)

Answer 8

Condition with an extra chromosome 13, leading to polydactyly, cleft lip/palate, microphthalmia, and cardiac anomalies.

Question 9

Turner Syndrome

Answer 9

X chromosome monosomy (45,X) with features like short stature, webbed neck, streak ovaries, and primary amenorrhea.

Question 10

Mosaic Turner Syndrome

Answer 10

Condition where some cells have 45,X and others have normal karyotype (46,XX), leading to variations in symptoms.

Question 11

Meiosis Non-disjunction

Answer 11

Common in genetic disorders like Down syndrome, involving errors in chromosome separation during cell division.

Question 12

Trisomy 21

Answer 12

A genetic disorder caused by the presence of a third copy of chromosome 21, leading to Down syndrome.

Question 13

Meiosis II non-disjunction

Answer 13

An error in cell division where homologous chromosomes fail to separate during the second division of meiosis, leading to genetic abnormalities.

Question 14

Klinefelter syndrome

Answer 14

A genetic condition resulting from the presence of an extra X chromosome in males, leading to various physical and developmental differences.

Question 15

Mosaic for Down syndrome

Answer 15

Having two or more populations of cells with different genotypes, potentially resulting from non-disjunction events during cell division.

Question 16

Mitotic non-disjunction

Answer 16

An event where chromosomes fail to separate properly during cell division, leading to an abnormal number of chromosomes in resulting cells.