Lecture Summary: Genetic Disorders Flashcards
a characteristic group of signs and symptoms that occur together in one patient
syndrome
a person’s (or a plant’s, or an animal’s) genetic makeup
genotype
the observable, physical evidence of one’s genotype (eye color, height)
phenotype
humans have __ chromosomes that are in ____ pairs
46, 23
of the 23 pairs, ___ are autosomal and __ pair is the sex chromosome
22, 1
chunk of DNA that contains the instructions for making a specific protein
gene
a change in the structure of a gene
mutation
mutations can be…
totally silent, non-problematic, or problematic
autosomal dominant inheritance (AD)
- disease allele is ____
- only need ____ to get disease
- other allele can be normal, but you (will/will not) get disease
- dominant
- one copy of allele
- will
autosomal recessive inheritance (AR)
- disease allele is ____
- you need to inherit ____ disease alleles (one from ___ and one from ___)
- if you inherit _____________, you won’t get the disease
- recessive
- two; mom, dad
- one disease allele and one normal allele
X-linked recessive inheritance (XLR)
- disease all is ____ on the __ chromosome
- males are ___ likely to get this type of disease
- females ____ get x-linked disease, but can be ____
- recessive, X
- more
- almost never, carriers
inheritance pattern for clefting disorders can be ______
AD, AR, XLR
Clefting usually happens in _____ or _________ (____cleft palate is rare)
the lip or in both the lip and palate, isolated
When clefting is limited to the lip, it’s usually _____, and usually on the ___ side
unilateral, left
pierre robin sequence characteristics
small mandible
cleft palate
glossoptosis (tongue is retracted)
papillon-LeFevere syndrome inheritance pattern
AR
papillon-LeFevere syndrome characteristics
- patients get lots of infections
- bad periodontitis with “floating teeth”
- patient lose all teeth by teenage years
cherubism inheritance pattern
AD
cherubism characteristics
- “cherub-like” face with large cheeks
- enlarged posterior mandible
- tooth displacement
most common inherited bone disease
osteogenesis imperfecta
osteogenesis imperfecta inheritance pattern
AD, AR (can also occur via mutation)
osteogenesis imperfecta characteristics
- caused by mutation in type I collagen
- weak, deformed bones
- blue sclera
- opalescent teeth
neurofibromatosis inheritance pattern
AD, mutation
neurofibromatosis characteristics
- patients have neurofibromas that can be disfiguring
- cafe-au-lait skin spots, nodules
- enlarged mandible
neurofibromas are tumors of the _____
nerve sheath
peutz-jeghers syndrome inheritance pattern
AD
peutz-jeghers syndrome characteristics
- intestinal polyps
- oral lesions that are brown spots in and around mouth
amelogenesis imperfecta inheritance pattern
AD, AR, XLR
amelogenesis imperfecta characteristics
- problem in enamel formation
- enamel that is pitted, mottled brown, or very white
dentin dysplasia inheritance pattern
AD
dentin dysplasia characteristics
type 1: rootless teeth that are easily fractured
type 2: normal root length, but enlarged pulp
