Genetics and Genomics

Question 1

Autosomal choromosomes

Answer 1

22 pairs
One chromosome from each parent makes up each pair of autosomal chromosomes

Question 2

Multifactorial disorders

Answer 2

Multifactorial disorders are affected by more than one gene as well as how they interact with the environment and lifestyle.

Question 2

Aneuploidy

Answer 2

-An imbalanced chromosomal complement caused by one or more extra or missing chromosomes.
-most common chromosome deviation in humans and the main genetic contributor to birth anomalies and spontaneous abortions.

Question 2

Characteristics of Down syndrome (physical)

Answer 2

Flat facial appearance, specifically the nose
Eyes wide set with upward slant
Shorter neck
Smaller ears
Protruding tongue
Smaller hands and feet
Single palmar crease
Weak muscles due to poor tone

Question 2

Sex chromosomal anomalies types

Answer 2

single-gene disorders, chromosome anomalies, and multifactorial inheritance

Question 3

When caring for a newborn who has Down syndrome, what characteristics or disorders place the newborn at risk for aspiration?

Answer 3

A protruding tongue can make feedings difficult and may affect digestion. Poor muscle tone or weak muscles can make feeding a challenge and limit the newborn’s ability to suck and swallow successfully. Heart defects can contribute to poor feeding on any newborn, placing the newborn at risk for aspiration. Therefore, a newborn who has both Down syndrome and a congenital heart defect has a higher risk for feeding difficulties and aspiration.

Question 3

Common Down syndrome congenital issues

Question 4

Duplication Mutation

Answer 4

A kind of mutation in which a DNA segment, ranging in size from a few bases to a major chromosomal region, is produced in one or more copies.

Question 5

Ring chromosome mutation

Answer 5

A circular structure that results from a chromosome’s broken ends fusing together after it breaks in two.

Question 6

Isochromosome mutations

Answer 6

A structural anomaly in which the chromosome arms are mirror reflections of one other.

Question 7

deletion mutation

Answer 7

A kind of mutation in which a DNA segment loses one or more nucleotides.

Question 8

translocation mutation

Answer 8

Happens when a chromosome splits and the two broken pieces reattach to separate chromosomes.

Question 9

inversion mutation

Answer 9

Occur when a segment splits off and rejoins the same chromosome in the opposite direction.

Question 10

Sex chromosome anomalies

Answer 10

affect 1 in 400 births and are the most prevalent chromosomal disorders.

Question 11

Turner Syndrome

Answer 11

Female
Short stature
Wide chest
Low hair line
Early loss of ovarian function
Lymphedema
Amenorrhea
Structural kidney defects
Structural heart defects

Question 12

Klinefelter syndrome

Answer 12

Male
Increased height
Long extremities
Female hair distribution
Small testes
Infertility
Delayed puberty
Developmental delay
Increased risk for breast cancer

Question 13

Triple X syndrome

Answer 13

Female
Increased height
Potential learning disability
Delayed speech and language skills
Weak muscle tone
Behavioral and emotional difficulties
Seizures
Kidney abnormalities

Question 14

XYY syndrome

Answer 14

Male
Increased height
Potential learning disabilities
Delayed speech and language skills
Weak muscle tone
Hand tremors
Asthma
Seizures
Scoliosis
Behavioral and emotional difficulties

Question 15

Autosomal Dominant mutation

Answer 15

Huntington’s disease and Marfan syndrome.

Question 16

Autosomal Recessive mutations

Answer 16

Typically, autosomal recessive disorders do not affect every generation of a family. Cystic fibrosis, sickle cell disease, and phenylketonuria are examples of autosomal recessive conditions.

Question 17

Inborn Errors: Phenylketonuria

Answer 17

a rare hereditary condition that causes the body to accumulate phenylalanine, an amino acid. PKU is caused by changes in the phenylalanine hydroxylase (PAH) gene. This gene contributes to the synthesis of the enzyme necessary to break down phenylalanine.
Phenylalanine accumulates and is harmful to the brain when PAH is absent or inadequate. Most clients who have PKU would become severely intellectually disabled without therapy. Treatment involves a carefully monitored, phenylalanine-restricted diet starting in the first few days or weeks of birth to prevent intellectual impairment.

Question 18

X-Linked Dominant mutation

Answer 18

fragile X syndrome.
seen less in males

Question 19

X-Linked Recessive mutation

Answer 19

Fathers are unable to pass on X-linked traits to their male offspring, just like in the case of X-linked dominant conditions. Hemophilia is an illustration of an X-linked recessive illness.

Question 20

Targeted Carrier screening

Answer 20

Screening for diseases based on ethnicity or family history.

Question 21

expanded carrier screening

Answer 21

A single sample is used to screen for numerous disorders without race or ethnicity as a factor.