Pathology: Genetics

  1. Chromosomal disorders may be due to _______. (5)
    • -Changes in chromosome number or structure      
    • -Some Autosomal disorders       
    • -Sex chromosome abnormalities
    • -Increased number of trinucleotide repeats
    • -Genomic imprinting
  2. Chromosome number which is not a multiple of 23
  3. Chromosome number is greater than 2 haploid
  4. Absence of a part or a whole chromosome
  5. Reunion of a broken chromosome in an inverted position
  6. (T/F) Inversion does not occur in the same chromosome.
  7. Exchange of chromosomal segments between non homologous chromosomes
  8. (T/F) Translocation happens between different chromosomes.
  9. Common name for Trisomy 21
    Down's Syndrome
  10. They have the best prognosis and usually does not look like a DS patient.
  11. Give the two common lethal trisomies.
    • Trisomy 18
    • Trisomy 13
  12. Trisomy 18 is also known as ______.
    Edwards Syndrome
  13. Trisomy 13 is also known as _____.
    Patau Syndrome
  14. What are the characteristics of a patient with Di George Sydrome?
    • CATCH 22 (Cardiac, Abnormal
    • fascies, T cell deficit/thymic hypoplasia, Cleft
    • palate, Hypocalcemia/hypoparathyroidism)
  15. A disease that is caused by having only one X chromosome. (XO)
    Turner syndrome
  16. Klinefelter syndrome is a disorder caused by extra ____ chromosomes.
    X chromosomes => (XXY, XXXY)
  17. An important cause of MR
    second to DS. There is an increased CGG tandem repeats.
    Fragile X syndrome
  18. Also known as “marshmallow kids”. It is caused by the deletion of chromosome 15.
    Prader Willi syndrome
  19. (T/F) A child can get Prader Willi Syndrome through paternal transmission.
  20. Also known as the “happy puppet syndrome”. It is also caused by the deletion of chromosome 15 but it's the mother that transmits it.
    Angelman syndrome
  21. “kahit isa lang na gene ang present, nag-mamanifest na”
    Autosomal Dominant
  22. “kailangan ang dalawang genes to manifest”
    Autosomal Recessive
  23. Hunter syndrome, fabry disease, hemophilia A Lesch-nyhan syndrome

    These diseases are caused by an ________ gene.
    X-linked recessive
  24. A very rare  variant of X linked disorder where
    both heterozygous females and homozygous males are affected.
    X-linked dominant
  25. It is caused by cytoplasmic (mitochondrial genes) which are exclusively inherited from the
    Mitochondrial inheritance
  26. Give the three disorders of sexual differentiation.
    • ·Genetic sex: XX or XY genes
    • ·Gonadal sex: presence of testes or ovaries
    • ·Genital sex: external genitalia
  27. Both ovarian and testicular tissue are present with ambiguous external genitalia and
    both XY chromosome
    True hermaphrodite
  28. Their gonads are testes but their external genitalia is not clearly male.
    Male Pseudohermaphrodite
  29. Their gonads are ovaries but external
    genitalia are not clearly female.
    Female Pseudohermaphrodite
  30. Congratulations!!! You finished Pathology: Genetics!! :)
    Don't give up! GOD is at work! :)
Card Set
Pathology: Genetics
lecture 5