Genetic Advancements

Question 1

Major malformations occur in approximately __ % of all live births?

Answer 1

2%

Question 2

Of the 2% of malformations with live birth what ___% are associated with a genetic cause and an increased risk of recurrence.

Answer 2

80%

Question 3

Only ___ to ___% of genetic disorders are diagnosed in the neonatal period?

Answer 3

40 to 45%

Question 4

About ___% are identified before the age of 6 months

Answer 4

80%

Question 5

Advanced parental age (female and male); ___ years old at the date of birth

Answer 5

35

Question 6

At the age of \_\_\_\_ years, what is a risk 
History Miscarriages or stillbirth
Family history of 
a) birth defects
b) mental retardation
c) growth retardation
d) neurologic conditions
e) familial conditions

Answer 6

35

Question 7

Fetal exposure to:
a) \_\_\_\_\_\_\_\_\_\_\_
b) intrauterine infections
c) radiation
d) toxic chemical
e) illegal substances 
Cause birth defects

Answer 7

a) medication

Question 8

_____ background can increase the risk of carrier status for specific genetic disorders [ sickle cell disease, phenylketonuria (PKU)]

Answer 8

Ethic

Question 9

_________ presentation specific to genetic disorder, may include

a) dysmorphic features
b) developmental delay
c) normal intelligence to mental retardation
d) short stature
e) failure to thrive
f) progressive deterioration of health status
g) seizures

Answer 9

Phenotypic

Question 10

_______ presentation refers to diagnostic characteristics

Answer 10

Genotypic

Question 11

Obtain a pedigree history : _____ generations
a. Family members: include miscarriage, stillbirths, and abnormalities.
Prenatal screening and diagnosis

Answer 11

Three

Question 12

A variety of chromosomal abnormalities, collectively known as “syndromes,” may develop as a result of either parent’s genetics or can be ______.

Answer 12

spontaneous

Question 13

a) This is present on third #21 chromosome
b) occurs in 1: 660 births
c) Increased maternal/ parent age increased risk
d) degree of retardation may range from mild to severe

Answer 13

Trisomy 21 (Down Syndrome)

Question 14

Physical findings of this are:

a) Microcephaly
b) flattened nose: Eyes wider apart than usual; hypertelorism (widely separated eyes) do to flattened nose
c) Protruding tongue
d) inner epicanthal folds
e) Upward slanting eyes
f) short broad hands/ fingers; single palmar crease
g) Delayed growth/ development
h) hypotonia
i) Bushfield spots

Answer 14

Trisomy 21

Question 15

Other manifestations that occur with down syndrome:

a) ______
b) congestive heart disease
c) endocrine abnormalities
d) esophageal/ duodendal atresia
e) Hearing/ vision impairment
f) Obesity
g) leukemia
h) early dementia

Answer 15

Trisomy 21

Question 16

XXY syndrome is also called?

Answer 16

Klinefelter’s syndrome

Question 17

a) Extra X chromosome; only in males
b) Occurs in 1: 1,000 males
c) Appears normal at birth; presenting in puberty
d) May present initially as infertility; not inherited
e) The most common cause of hypogonadism and infertility in men

Answer 17

XXY syndrome (Klinefelter’s syndrome)

Question 18

Phenotypical manifestations of XXY syndrome (Klinefelter’s syndrome)

a) ______ stature
b) transverse crease
c) abnormal body proportions
d) underdeveloped secondary sexual characteristics
e) gynecomastia
f) learning disability
g) personality impairment

Answer 18

Tall

Question 19

a) The most common sex- chromosome anomaly of females
b) occurs in 1: 2000 live births
c) 95% of embryos do not survive to term

Answer 19

XO Karyotype

Question 20

Typical findings of this:

a) lymphedema
b) webbed neck
c) low hairline
d) learning disability
e) lack of secondary sexual characteristics
f) “Shield” -shaped chest (widely spaced nipples)
g) variety of head/neck abnormalities
h) hypertension
i) The bicuspid aortic valve, coarctation of the aorta

Answer 20

XO Karyotype (Turner’s syndrome)

Question 21

Inherited connective tissue disorder affecting skeletal, cardiac, and ophthalmic body systems

Answer 21

Marfan syndrome

Question 22

a) Occurs in 1: 20,000 births
b) Tall stature
c) arms span exceeds the height
d) thin extremities and fingers
e) long narrow face
f) pectus carcinatum or excavatum
g) hyperextension of joints
h) genu recurvatum
i) Kyphoscoliosis
j) High arched, narrow palate
k) Cardiovascular
*** 1) aortic regurgitation
*** 2) Mitral valve prolapse
***** 3) aortic aneurysm
L) eyes
***** 1) ectopia lentis
***** 2) iridodonesis

Answer 22

Marfan syndrome

Question 23

a) Found in the Ashkenazic Jewish population
b) Occurs in 1: 2,500 live births
c) Normal at birth; deterioration begins between three and six months of age

Answer 23

Tay Sachs Disease

Question 24

Typical progression:

a) decreased muscle tone
b) cherry red macula
c) Listlessness
d) blindness
e) deafness
f) seizures
g) dementia
h) vegetative state
i) death

Answer 24

Tay- Sachs Disease

Question 25

a) Congenital defect of the parathyroid glands, thymus, and the conotruncal region of the heart
b) Phenotypic presentation
c) Significant neonatal morbidity and mortality associated with cardiac defects

Answer 25

DiGeorge (Velocardiofacial) Syndrome

Question 26

1) Abnormal facies
a) lateral displacement of inner canthi
b) Short palpebral fissures
c) short philtrum
d) Micrognathia
e) Ear anomalies
2) Congenital heart defects (aortic arch anomalies)
3) Hypoparathyroidism with hypocalcemia (seizure in infancy)
4) Cognitive/ behavioral psychiatric problems
5) Significant neonatal morbidity and mortality associated with cardiac defects

Answer 26

DiGeorge (Velocardiofacial) Syndrome