Genetic Concerns Flashcards
Phenotype
definition examples (2)
Outward, physical manifestations
dysmorphic features
short stature
Genotype
Genetic makeup
Pedigree history
AKA
how many generations?
Genogram
Three generations
Typical characteristics of a child with PKU?
Blond, blue eyed, flat footed
Michael Poole
What is another name for Down’s Syndrome?
Trisomy 21
What causes people with Down’s sydrome to appear to have widely spaced eyes?
Their flattened nose
Why do people with Down’s syndrome appear to have a large tongue?
Low tone
What are inner epicanthal folds and who is likely to have them?
Redundant skin at the inner corner of the eye
Down’s syndrome likely to have
What palmar feature can often be found in those with Down’s syndrome?
Single transverse palmar crease
Down’s syndrome -
complications that may occur (8)
hearing or vision impairment seizures early dementia (age 30-40) congenital heart disease such as septal defects intestinal atresia obesity endocrine abnormalities - Diabetes leukemia (4x greater risk)
What is another name for Klinefelter’s Syndrome?
XXY syndrome
Klinefelter’s syndrome -
males, females, or both
males
Klinefelter’s syndrome -
what is the genetic situation?
significance?
An extra X chromosome
which results in a “little more female-ness”
Klinefelter’s syndrome -
when do manifestations become apparent?
Puberty;
appears normal at birth
Klinefelter’s syndrome -
may present initially with what complaint?
Infertility
Klinefelter's syndrome - phenotypical manifestations (7)
tall stature abnormal body proportions transverse palmar crease underdeveloped secondary sex characteristics gynecomastia learning disability personality impairment
What is another name for Turner’s syndrome?
XO karyotype
What is a KARYOTYPE?
The number and appearance of chromosomes
Turner’s syndrome -
males, females, or both
females only
Turner’s syndrome -
What percent survive to term?
Only 5%
Turner’s syndrome -
What is a key finding in utero?
Lymph-EDEMA
resulting in a “puffy baby” and webbed neck
Turner's syndrome - phenotypical presentation (7)
short stature low hairline webbed neck "shield-shaped" chest lack of secondary sex characteristics learning disabilities hypertension --> coarctation of aorta
What is Marfan syndrome?
Inherited CONNECTIVE TISSUE disorder
Marfan syndrome -
what systems are affected?
skeletal
cardiac
ophthalmic
Marfan syndrome - phenotypical presentation (5)
tall arm span exceeds height pectus carinatum or excavatum kyphoscoliosis (curvature of spine) hyperextension of joints
Marfan syndrome -
typical facial appearance
long and narrow
Marfan syndrome -
typical palate
high-arched and narrow
Marfan syndrome -
cardiovascular significance
AR
MVP
AA
Marfan syndrome -
eye involvement - terms and definitions
ectopia lentis - lens dislocation
iridodonesis - tremulousness of the iris on movement of the eye
Tay-Sachs disease -
seen most in what population
Ashkenazic Jews
Tay-Sachs disease -
age of onset
Normal at birth;
deterioration begins between @ 3 - 6 months
Tay-Sachs disease -
life expectancy
usually die by age 7 to 8 years
Tay-Sachs disease - typical progression (7)
decreased muscle tone listlessness blindness deafness seizures vegetative state death
Tay-Sachs disease -
hallmark on eye exam
cherry red macula
DiGeorge Syndrome -
otherwise known as…
Velo-cardio-facial syndrome
DiGeorge Syndrome -
congenital defect affecting what areas of the body?
parathyroid
thymus
face (conotruncal anomalies)
DiGeorge Syndrome - phenotypic presentation (3)
increased INFECTION (due to thymic dysplasia) abnormal FACIES - lateral displacement of inner canthi - short palpebral fissures - short phitrum - micrognathia (receding chin) - ear anomalies AORTIC ARCH anomalies
DiGeorge Syndrome -
endocrine effects
hypoparathyroidism
–> HYPOcalcemia –> seizures in infancy
DiGeorge Syndrome -
cognitive and behavioral problems?
yes
DiGeorge Syndrome -
cause of neonatal morbidity and mortality related to what?
cardiac defects
Down’s syndrome -
what eye condition can be associated?
Brushfield spots (salt and pepper speckling of the iris)
