Numerical Abberations

Question 1

2 Major Categories of Chromosomal Abnormalities

Answer 1

• Numerical Abnormalities
• Structural Abnormalities

Question 2

Defects involving an abnormality in the number of chromosomes

Answer 2

Numerical Abnormalities

Question 3

Subclassifications of Numerical Abnormalities

Answer 3

ANEUPLOIDY
POLYPLOIDY

Question 4

Condition of having a normal number of structurally normal
chromosomes

Answer 4

Euploidy

Question 5

Any abnormal number of chromosomes that is not a multiple of the haploid number

Answer 5

Aneuploidy

Question 6

Presence of an extra chromosome

Answer 6

Trisomy

Question 7

Absence of a single chromosome

Answer 7

Monosomy

Question 8

Cause of Aneuploidy

Answer 8

Non disjunction - Failure of chromosomes to separate normally

Question 9

Chromosome number is higher than 46 but is
always an exact multiple of the haploid

Answer 9

Polyploidy

Question 10

A karyotype with 69 chromosomes

Answer 10

Triploidy (3n)

Question 11

A karyotype with 92
chromosomes

Answer 11

Tetraploidy (4n)

Question 12

2 ways of Autopolyploidy

Answer 12

• Nondisjunction
• Meiotic nondisjunction
• Mitotic nondisjunction (occur in early embryo)
• Genome duplication

Question 13

Cell with fewer than 46 chromosomes

Answer 13

Hypodiploid

Question 14

Cells have from 23 up to approximately 34 chromosomes

Answer 14

Near-haploid

Question 15

Cells have more than 46 chromosomes

Answer 15

Hyperdiploid

Question 16

Chromosome number of more than 50

Answer 16

High hyperdiploidy

Question 17

Disease Associations

Answer 17

Infertility and sterility
Intersexes
Multiple congenital malformations
Mental retardation

Question 18

Types of Aneuploidy

Answer 18

Sex Chromosome Aneuploidies Autosomal Aneuploidies

Question 19

Females

Answer 19

Turner syndrome (XO)
Metafemale (Triple- X)

Question 20

Males

Answer 20

Klinefelter syndrome (XXY)
Jacob syndrome (XYY)

Question 21

Which sex chromosomal aberrations are monosomy?

Answer 21

Turner Syndrome?

Question 22

Turner syndrome is first described in year __?

Answer 22

1938

Question 23

Turner syndrome is first described by ___?

Answer 23

Dr. Henry Turner

Question 24

Turner syndrome occurs in ____

Answer 24

1 out of every 8,000 girls

Question 25

Presence of an extra X chromosome in each cell of a human female

Answer 25

Triple-X, trisomy X, XXX syndrome, and 47,XXX aneuploidy

Question 26

47, XXY or XXY syndrome

Answer 26

Klinefelter’s Syndrome

Question 27

Cite features of Triple X Syndrome

Answer 27

* Menstrual irregularities * Learning Disabilities

Question 28

Cite features of Turner Syndrome

Answer 28

* Short stature * Lymphedema (swelling) of the hands and feet * Rudimentary ovaries gonadal streak (underdeveloped gonadal structures) * Shortened metacarpal IV (of hand) * Small fingernails * Characteristic facial features * Webbed neck

Question 29

47, XXY or XXY syndrome

Answer 29

Klinefelter’s Syndrome

Question 30

Cite features of Klinefelter's Syndrome

Answer 30

Gynecomastia Weaker bones Low energy levels Smaller testicles & penis Delayed puberty Less facial & body hair

Question 31

47, XYY syndrome

Answer 31

Jacob’s Syndrome

Question 32

Cite features of Jacob's Syndrome

Answer 32

* Normal appearance -> tall stature * Increased vulnerability to ADHD (attention deficit hyperactivity disorder) * Learning disabilities * Increased vulnerability to autistic spectrum disorders * Eyes set slightly far apart * Large head * Infertility

Question 33

Autosomal Numeric Aberration

Answer 33

* Down Syndrome * Edward Syndrome * Patau Syndrome * Warkany Syndrome

Question 34

Trisomy 21, Trisomy G

Answer 34

Down Syndrome

Question 35

Down Syndrome is named after Doctor ___?

Answer 35

John Langdon Down

Question 36

Down Syndrome is named in the year ___?

Answer 36

1866

Question 37

Cite features of Down Syndrome

Answer 37

* Microgenia (an abnormally small chin) * Unusually round face * Macroglossia (protruding or oversized tongue) * Almond shape to the eyes caused by an epicanthic fold of the eyelid * Shorter limbs * Poor muscle tone * Larger than normal space between the big and second toes

Question 38

Trisomy 18 / Trisomy E is known as?

Answer 38

Edwards Syndrome

Question 39

Trisomy 18 / Trisomy E results from?

Answer 39

heart abnormalities, kidney malformations, and other internal organ disorders

Question 40

Cite features of Edwards Syndrome

Answer 40

Low birthweight * Small, Abnormal shaped head * Small jaw and mouth * Long fingers that overlap, with underdeveloped thumbs and clenched fists * Low-set ears * Smooth feet with rounded soles * Cleft lip and palate

Question 41

Trisomy 13 is also known as?

Answer 41

Patau Syndrome

Question 42

Cite features of Patau Syndrome

Answer 42

* Small head size * Extra toes or fingers * Cleft lip or palate * Heart defects * Holoprosencephaly à the brain doesn't divide into two halves; Severe mental retardation * Nasal malformation * Hypotelorism (reduced distance between the eyes) or cyclops

Question 43

Trisomy 8 is also known as

Answer 43

Warkany Syndrome

Question 44

Cite features of Patau Syndrome

Answer 44

* Characteristic facial features: * Elongation of the skull (scaphocephaly) * Prominent forehead * Widely-spaced eyes * Deeply set eyes * Broad upturned nose * Brain malformations * Highly arched or cleft palate * Shortened neck with extra skin folds * Long slim body with a narrow chest, shoulders, and pelvis * Kidney and cardiac abnormalities