Module 2 Flashcards
genetic diseases, women's reprocuctive health, men's health, STIs
What family hx elements should be included when considering a genetic syndrome?
- the age and sex of family members
- when family members were affected by disease or when they died
- the ethnic background
- If there is consanguinity
What is the most common chromosomal abnormality?
Down syndrome
The underlying karyotype for Down Syndrome
95% nonfamilial trisomy 21 (47 total chromosomes),
3% to 4% unbalanced translocation
1% to 2% genetic mosaicism
Birth rates are highest among who?
mothers of advanced maternal age (one in 400 at 35 years of age, one in 105 at 40 years of age, one in 12 at 45 years of age); however, 80% of all children with Down syndrome are born to mothers younger than 35 years.
Risk Factors for Down Syndrome
maternal age > 35
Previous child with Down Syndrome
What are the common features of a baby with Down syndrome?
Flattened nasal bridge, small head, epicanthal folds, thick tongue, small ears, short neck
Non Pharm Mgmt for Down Syndrome
Annual eye and ear exams
Monitor for sleep apnea, GER, celiac disease and dysphagia
Annual thyroid testing
Monitor for the development of leukemia, heart disease, HTN, myelopathy
syndrome characterized by the partial or complete absence of one X chromosome (45,X karyotype)
Turner syndrome
Patients with Turner syndrome are at risk for
congenital heart defects (and may have progressive aortic root dilatation or dissection)
congenital lymphedema
renal malformation
sensorineural hearing loss
osteoporosis
obesity
diabetes
and atherogenic lipid profile
Physical manifestations in Turner’s syndrome
Physical manifestations may be subtle but can include misshapen ears, a webbed neck, a broad chest with widely spaced nipples, and cubitus valgus.
When should a Turner syndrome diagnoses be considered?
Turner syndrome diagnosis should be considered in girls with short stature or primary amenorrhea.
Klinefelter syndrome
boys born with an additional X chromosome
Symptoms of Klinefelter syndrome
infertility, small testes, decreased facial hair, gynecomastia, decreased pubic hair, and a small penis. Because of their long legs, men with Klinefelter syndrome often are taller than predicted based on parental height.
Tay-Sachs disease
a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord
When does the most common form of Tay-Sachs disease become apparent?
In infancy
At 3 to 6 months, when their development slows and muscles used for movement weaken.
Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises.
What abnormality is characteristic of Tay-Sachs disease?
An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder.
What distinctive facial features may infants with Tay Sachs have?
Affected infants may have distinctive facial features including almond-shaped eyes, a thin upper lip, a downturned mouth, a narrow bridge of the nose, a narrow forehead, and a disproportionately long, narrow head (dolichocephaly).
Distinctive facial features can be noticeable shortly after birth or may develop slowly over time.
