Genetic Advancements Flashcards
Major malformations occur in approximately __ % of all live births?
2%
Of the 2% of malformations with live birth what ___% are associated with a genetic cause and an increased risk of recurrence.
80%
Only ___ to ___% of genetic disorders are diagnosed in the neonatal period?
40 to 45%
About ___% are identified before the age of 6 months
80%
Advanced parental age (female and male); ___ years old at the date of birth
35
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
35
Fetal exposure to: a) \_\_\_\_\_\_\_\_\_\_\_ b) intrauterine infections c) radiation d) toxic chemical e) illegal substances Cause birth defects
a) medication
_____ background can increase the risk of carrier status for specific genetic disorders [ sickle cell disease, phenylketonuria (PKU)]
Ethic
_________ 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
Phenotypic
_______ presentation refers to diagnostic characteristics
Genotypic
Obtain a pedigree history : _____ generations
a. Family members: include miscarriage, stillbirths, and abnormalities.
Prenatal screening and diagnosis
Three
A variety of chromosomal abnormalities, collectively known as “syndromes,” may develop as a result of either parent’s genetics or can be ______.
spontaneous
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
Trisomy 21 (Down Syndrome)
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
Trisomy 21
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
Trisomy 21
XXY syndrome is also called?
Klinefelter’s syndrome
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
XXY syndrome (Klinefelter’s syndrome)
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
Tall
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
XO Karyotype
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
XO Karyotype (Turner’s syndrome)
Inherited connective tissue disorder affecting skeletal, cardiac, and ophthalmic body systems
Marfan syndrome
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
Marfan syndrome
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
Tay Sachs Disease
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
Tay- Sachs Disease
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
DiGeorge (Velocardiofacial) Syndrome
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
DiGeorge (Velocardiofacial) Syndrome
