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33 Cards in this Set
- Front
- Back
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Marfan Syndrome
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Autosomal dominant connective tissue disorder
Defect of fibrillin 1 Clinical: extremely long limbs, arachnodactyly, EMERGENT aortic dissection |
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Neurofibromatosis
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Autosomal dominant
Cause: benign tumors arise in swan cells due to defect in tumor suppressor gene Type1: multi neurofibromas, 6 or more cafe spots, axillary or inguinal freckling, lisch nodules Type2 Tumor of acoustic nerve, presents in 15yrs or older |
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Phenylketonuria PKU
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Autosomal recessive
Cause: inability to break down phenylalnine, no live enzyme Clinic: Newborn screening, diet restriction to prevent brain damage Check intrauterine levels of PHE, can cause congenital heart disease |
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Tay Sachs
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Autosomal recessive
Lysosomal storage disease in nerve cells of brain Remember eastern European Clinic: Cherry red spot in eye, expected lifespan 4yrs |
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X linked disorders
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Fragile X
Trinucleotide disorder (2nd cause of MR next to downs) Hemophilla |
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Fragile X syndrome
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Fragile site on X chromosome fails to condense.
Clinic: long face, large mandible, everted ears M-Macroorchidism F-early menopause |
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Characteristics of Multifactoral disorders
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Combination of genetics, environment, and exposures
Not mendelian |
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Explain maternal age effect on chromosomal disorders
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as age increases chances of having a child with chromosomal disorder increases
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Explain Chromosomal Disorders and give examples
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Aneuploidy, due to failure of chromosomes to separate during oogenesis or spermatogenesis, can be due to structural damage
-Spontaneous abortions very common, 50% of pregnancies lost in 1st trimester Monosomy-Tuner syndrome Trisomy- Downs Triploidy- |
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Downs syndrome
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Trisomy 21
Cause by error in cell division during meiosis (MATERNAL NONDISJUNCTION) Congenital heart defect Quad screen prenatal test -alpha fetoprotein -human chorionic gonadotropin -Inhibin A -Plasma protein A |
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Explain sex chromosome disorders
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One active X, the other should be inactive
Y chromosome-testicular development -Turner -Klinefelter |
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Tuner syndrome
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Absence or part of X chromosome
-No ovaries, need estrogen therapy Have normal intellect |
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Explain Chromosomal Disorders and give examples
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Aneuploidy, due to failure of chromosomes to separate during oogenesis or spermatogenesis, can be due to structural damage
-Spontaneous abortions very common, 50% of pregnancies lost in 1st trimester Monosomy-Tuner syndrome Trisomy- Downs Triploidy- |
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Downs syndrome
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Trisomy 21
Cause by error in cell division during meiosis (MATERNAL NONDISJUNCTION) Quad screen prenatal test -alpha fetoprotein -human chorionic gonadotropin -Inhibin A -Plasma protein A |
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Explain sex chromosome disorders
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One active X, the other should be inactive
Y chromosome-testicular development -Turner -Klinefelter |
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Tuner syndrome
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Absence or part of X chromosome
-No ovaries, need estrogen therapy Have normal intellect |
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Klinefelter syndrome
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Testicular dysgenesis accompanied by presence of one or more extra X chromosomes
-may have feminine voice, language impairment -congenital hypogonadism PT, speech therapy, androgen therapy, breast exam |
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Explain mitochondrial disorders
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Inherited in maternal line
Mutated mtDNA cause disorder expression Effect tissues dependent on oxidative phosphorylation, neuromuscular system |
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Genetic Imprinting disorder
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Angelman- happy puppet
Prader Willi (hypotoina- decreased muscle tone) |
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Define Teratogens
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Agents that can have harmful effect on a developing fetus
-Do not always cause birth defects -Great variability in severity -can be genetically modified |
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Define period of vulnerability
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Orgaongenesis days 15-60 postconception, most susceptible to teratogens
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Fetal Alcohol syndrome
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ETOH crosses placenta causing a similar fetus to mother coincentration
Severity does not typically correlate to length and amount of exposure Signs- Pre/postnatal growth retardation, CNS involvement, dysmorphic facial features |
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Folic acid deficiency
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Neural tuble defects
-Anecephaly Spina bifida Encephalocele |
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Cleft Palate/Lip
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Multifactoral disorder
caused by teratogens and chromosomal abnormalities |
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Huntington's disease
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Autosomal dominate
trinucleotide repeat disorder cognitive decline and dementia |
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Hemophilla
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X linked disorder
inability to clot |
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Factor 5
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autosomal dominant
hypercoagulative clot danger |
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Sickle Cell
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autosomal recessive
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Recurrent spontaneous abortions
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could be due to a parent carrying a chromosomal condition
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genetic counseling
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o Genetic Counselors assess family history, medical history and help individuals understand his or her risk for an inherited susceptibility or diagnosis of a genetic disease
o Discuss applicability of genetic test to an individual’s needs, then reviews genetic testing options, risks, benefits and limitations |
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TORCH
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toxoplasmosis
other rubella cytomegalovirus herpes |
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Intrauterine factors can lead to
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amniotic band syndrome
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Cystic fibrosis
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autosomal recessive
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