How do mutations affect health and craniofacial development

Question 1

only factor that has been linked to an increased chance of having a baby with Down syndrome resulting from nondisjunction or mosaicism.

Answer 1

Maternal age

Question 2

Most cases of aneuploidy originate in _______and the risk rises with maternal age

Answer 2

female meiosis I

Question 3

Dominant, Recessive, Codominant are ____ disorders

Answer 3

single gene disorders

Question 4

Multiple genes, gene-environment are ____ disorders

Answer 4

Multifactorial or Complex disorders

Question 5

Caused not by a single major mutation but by interacting genetic and environmental risk factors; Most of the common diseases, from allergies to diabetes and coronary heart disease

Answer 5

Multifactorial diseases

Question 6

T/F: Heredity is not a factor in trisomy 21 (nondisjunction) and mosaicism

Answer 6

True

Question 7

T/F: About half the children with Down syndrome are born with some type of congenital heart defect.

Answer 7

True

Question 8

Aneuploidy, Rearrangements/Translocations, Deletions, Insertions, and Duplications are examples of ____ disorders

Answer 8

chromosome disorders

Question 9

____ is a sign of down syndrome; single deep crease across the center of the palm

Answer 9

transverse palmar crease

Question 10

Intellectual disability and delayed development, Small head size (microcephaly); Low birth weight, Weak muscle tone (hypotonia), Transverse palmar crease, Some have heart defects are characteristic of

Answer 10

Cri du chat

Question 11

full or partial copy of a chromosome like 21 attaches to another chromosome, usually chromosome 14

Answer 11

translocation

Question 12

T/F: due to higher birth rates in younger women, 80% of children with Down syndrome are born to women under 35 years of age.

Answer 12

True

Question 13

Heart defects, spinal defects, heartburn, sleep apnea, endocrine problems, dental problems, and seizures are common in patients with _______

Answer 13

down syndrome

Question 14

_____ is derived from the frontonasal prominence

Answer 14

Nasal Septum

Question 15

_______ separates the nasal cavity from the oral cavity

Answer 15

Secondary palate

Question 16

_____ are derived from the maxillary process of the first pharyngeal arch

Answer 16

Palatal shelves

Question 17

________ is needed for swallowing (feeding)-taste-vomiting-breathing-speech

Answer 17

Secondary palate

Question 18

What is the most common mechanism for Down syndrome?

Answer 18

Nondisjunction

Question 19

Down syndrome is a _____ at chromosome number ______

Answer 19

Trisomy at 21

Question 20

Caused by chromosome breakage or by recombination between mispaired chromosomes during meiosis

Answer 20

Chromosomal rearrangements

Question 21

Down syndrome is a type of ______ (chromosome disorder)

Answer 21

aneuploidy

Question 22

____ occurs when chromosomes don’t separate properly

Answer 22

Nondisjuction

Question 23

Widely set eyes (hypertelorism), Low-set ears, Small jaw (micrognathia)•Rounded face (moon facies), epicanthal folds, broad nasal bridge, downward-slanting palpebral fissures are common facial features associated with _____

Answer 23

Cri du chat

Question 24

T/F: Severe dominant diseases are often caused by a new mutation

Answer 24

True

Question 25

The average child is born with an estimated _____ new mutations that were not present in the parents

Answer 25

100-200

Question 26

Epicanthal fold, upslanting palpebral fissures, low-set small folded ears, short neck, flattened nasal bridge, brushfield spots are key facial characteristics of down syndrome

Answer 26

Down syndrome

Question 27

______ mutations are expressed in heterozygotes, who carry a single copy of the mutation

Answer 27

Dominant

Question 28

Low muscle tone, small stature, cognitive delay, and transverse palmar crease are signs of ____

Answer 28

Down syndrome

Question 29

An aberration in chromosome number caused by faulty segregation of chromosomes during mitosis or meiosis

Answer 29

Aneuploidy

Question 30

What is the least common mechanism for Down syndrome?

Answer 30

mosaicism

Question 31

1 in ____ infants is born with aneuploidy

Answer 31

1 in 400 infants

Question 32

_____ is a common example of chromosomal rearrangements

Answer 32

Cri-du-Chat syndrome

Question 33

Infants with this condition often have a high-pitched cry that sounds like that of a cat; characteristic of Cri du chat syndrome

Answer 33

Cat’s cry

Question 34

1 in ____ infants is born with a diagnosable genetic condition that can be attributed to a single major mutation

Answer 34

1 in 50 infants

Question 35

T/F: Spinal problems. Some people with Down syndrome may have a misalignment of the top two vertebrae in the neck (atlantoaxial instability). This condition puts them at risk of serious injury to the spinal cord from overextension of the neck.

Answer 35

True

Question 36

T/F: Only chromosomal rearrangements that change the copy number of genes or that break up an important gene are likely to cause disease

Answer 36

True