Genetic Diseases Flashcards
Obliterated pulp chamber
Dentinogenesis
Soap bubble lucencies are characteristics of ______
Cherubism
______ is the most common form of skin cancer
Basal cell carcinoma
- Multiple, early-onset basal cell carcinomas
- Multiple odontogenic keratocysts of the jaws
- Skeletal anomalies (eg, bifid ribs)
- Enlarged calvarium
- Calcified falx cerebri
- Mild hypertelorism
- Palmar/plantar pits
Nevoid Basal Cell Carcinoma Syndrome
Are hereditary and congenital diseases the same thing?
No
= genetically transmitted from parent to child
Hereditary
_____= synonym for hereditary
Familial
= present at birth–Has nothing to do with transmitting genes from parent to child.
Congenital
A ______ is an organized structure of DNA and protein that consists of a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences.
chromosome
______ formed when a cell needs to duplicate genetic material
Chromosomes
- An image of the metaphase chromosomes
- Reveals the karyotype
- Detects large abnormalities in chromosomes (duplications, deletions, translocations)
- Cannot detect single gene mutations
Karyogram
How many chromosomes are in the human karyotype?
46 chromosomes
An individual has two or more cell populations with a different chromosomal makeup
Chromosomal mosaicism
The genetic makeup
Genotype
The physical manifestation of a disease
Phenotype
_______= there is one copy of a gene (
Hemizygous
______ number: 23 (germ cells: oocytes and spermatocytes)
Haploid
______ number: 46 (all somatic cells)
Diploid
______: A multiple of the haploid number, greater than two (e.g. 69, 92)
Polyploid
______: A karyotype that is not an exact multiple of the haploid number (e.g. 45 or 47)
Aneuploid
- Female has a double dose of genetic material on the X chromosome
- Random inactivation of the X chromosome =
- Inactivated X chromosome presents as the Barr body
- Female is a mosaic with respect to the X chromosome
Lyonization
•In the _____, there are two alleles for genes on the X chromosome–X-linked disease is mild or non-existent in the
female
•In the ____, there is one allele for genes on the X chromosome–X-linked disease is all or none in the
male
- Failure of a homologous chromosome pair to separate during meiosis
- One gamete receives an extra chromosometrisomy
- The other gamete is missing a chromosomemonosomy
Nondisjunction
Females are less severely affected by sex-linked diseases than males due to: A. Lyonization B. Non-dysjunction C. Mosaicism D. Germ line mutations
A. Lyonization
A ______ is a permanent change in the normal base pair sequence
mutation
- A permanent change in the normal base pair sequence
* Can’t be seen on the karyogram
Mutations
______ mutation–a single base pair change causes the substitution of one amino acid for another in the protein
•Mis-sense mutation