Genetic Evaluations Flashcards
Indication for GEN EVAL > Advanced maternal/paternal age: -1- >> risk for -2- > Maternal History of -3- for -4- > 1st degree Family History of -5- > Exposure to -6-, -7- > or -8-
- 35/40+ for mom/dad (high exposure risk for eggs/weakened spermatic cord)
- many including T21
- Still births, miscarriages (multiple)
- mom/1st degree relatives
- a genetic diagnosis
- Drugs, caffeine, alcohol (xenobiotics)
- pesticide, or fertilizer (external toxins)
- Ancestral predisposition (sickle cell)
Trisomy 21/Down Syndrome > Neurological Phenotypes >> -1- >> -2- >> -3- >> -4- > Cardiovascular Phenotypes >> -5- >> -6-
- seizures
- microcephaly
- early dementia,
- brushfield spots (dark grey spots on perimeter of iris)
- leukemia risk
- congenital heart defect (most)
Practice considerations for Trisomy 21
Regular CBCs (polycythemia, iron deficiency anemia, leukemia)
atlantoaxial x-ray
Speech/Language Therapy
Klinefelter Genotype and Phenotype
XXY male
- hypogonadism and risk for devirilization (requiring hormone therapy); underdevelopment of secondary sex characteristics
- tall, long arms
- flat affect, poor empathy development
Turner Genotype, Phenotype (5), and Regular Screening Profile (7)
XO
webbed neck; low hairline learning disabilities shield-shaped chest heart defect infertility (hormone therapy)
Annual: blood pressure check, fasting lipids, and blood glucose, as well as liver and thyroid function tests.
Bi-/triannual: Celiac antibodies
Bi-/penannual: ENT/Audiology
Marfan syndrome phenotype
> Skeletal: -1-, long -2-; -3-; risk for -4-
> Cardiac: -5-; -6-
> Optic: -7-
- tall
- face and wingspan
- pectus carinatum/excavatum
- kyphoscoliosis
- aoritic regurg; MVP
- aortic root dilation/aneurysm (beta-blocker to treat)
- ectopia lentis; iridonesis
Tay-Sachs Statistics/Characteristics
Overwhelmingly affects -1- b/t -2-, causes -3- in -4-, -5-, and a progression of -6-, and -7-. Seen by -8-
- Ashkenazi jewish females
- 3-6 mo old
- rapid decrease
- muscle tone
- cherry red eyes
- blindness, deafness, vegetative state
- death
- palliative care & neuro
DiGeorge > Genotype: -1- > -2- --> low -3- --> -4- > -5- --> -6- --> frequent -7- > Abnormal -8- around -9- > -10- issues
- 22q11 deletion
- parathyroid hypoplasia
- calcium
- seizure
- thymic hypoplasia
- immunocompromise
- frequent infection (strict immunization)
- or flat facies
- the eyes & nose*
- Behavioral/psych
Trisomy 21: Musculoskeletal, Integumentary, and Metabolic Phenotypes
- flattened nose and wideset eyes
- hypertrophic tongue
- growth delay
- atlantoaxial instability (X-ray)
- palmar crease
- obesity, and
-1- does not increase the risk of genetic problems. -2-, family history of -3- and fetal exposure to -4-, however, increase the risk of genetic problems.
- Historical premature pregnancies
- Advanced parental age
- birth defects
- intrauterine infections
Rett’s disorder has been linked to a defect of -1-, so -2-are less likely to inherit this disorder. Signs and symptoms usually begin to onset at -3- of age.
Moreover, Rett’s disorder is a neurodegenerative developmental regression and is, therefore, managed by -4-. Little is known about -5-, however.
- the X chromosome
- males
- one year
- physical/cognitive therapy
- life expectancy
