NCMA219

    Cards (35)

    • What does phenotype refer to in genetics?
      Outward appearance or gene expression
    • What does genotype refer to in genetics?
      Actual gene composition
    • What does autosomal mean in the context of genetic disorders?
      Gene located on non-sex chromosomes
    • What does dominant mean in genetic inheritance?
      One copy of mutation causes disease
    • What is the chance of a child inheriting an autosomal dominant disorder?
      50% chance, regardless of sex
    • How does autosomal recessive inheritance occur?
      Child inherits mutated gene from both parents
    • What is the chance of a child inheriting an autosomal recessive condition with manifestation?
      25% chance of manifestation
    • What characterizes X-linked dominant inheritance?
      Gene responsible is on the X chromosome
    • Who is most affected by X-linked recessive inheritance?
      Males, as they have one X chromosome
    • What is multifactorial inheritance?
      Disorders from multiple gene combinations and environment
    • What does imprinting refer to in genetics?
      Differential expression of genetic material
    • Which syndrome is expressed only from the maternal chromosome 15?
      Angelman Syndrome
    • Which syndrome is expressed only from the paternal chromosome 15?
      Prader-Willi Syndrome
    • What are nondisjunction abnormalities?
      Uneven division of chromosomes during cell division
    • What happens if a spermatozoon or ovum with abnormal chromosomes fuses?
      Zygote will have 47 or 45 chromosomes
    • Why are 45 chromosomes not compatible with life?
      It could lead to abortion
    • What is translocation in genetics?
      Chromosome breaks and attaches to another chromosome
    • What are isochromosomes?
      Chromosomes divide horizontally, causing mismatched arms
    • What is mosaicism in genetics?
      Different cells have different chromosome counts
    • What is the purpose of genetic counseling?
      Provide information about inheritance and disorders
    • Who should consider genetic counseling?
      Couples with a child having a congenital disorder
    • What are nursing responsibilities in genetic counseling?
      Explain procedures and support couples
    • What is included in genetic disorders assessment history?
      Information for 3 generations
    • What is karyotyping?
      Visualization of chromosomal pairing
    • When is maternal serum screening done?
      At the 13th and 32nd week of pregnancy
    • What is alpha-fetoprotein?
      Glycoprotein produced by the fetal liver
    • What is chorionic villi sampling?
      Retrieval and analysis of chorionic villi
    • What is the accuracy of chorionic villi sampling?
      100% accurate result
    • When is amniocentesis performed?
      Done at the 14th to 16th week of pregnancy
    • What is percutaneous umbilical blood sampling?
      Withdrawal of blood from the fetal umbilical cord
    • When is percutaneous umbilical blood sampling done?
      Done at the 17th week of pregnancy
    • What is the purpose of fetal imaging?
      Identify fetal size and structural disorders
    • What is fetoscopy?
      Insertion of a fiberoptic tube to inspect fetus
    • What is preimplantation diagnosis?
      Testing before pregnancy for genetic abnormalities
    • What is the relation of preimplantation diagnosis to IVF?
      Possible before IVF if genetic history exists
    See similar decks