Genetic Disorder Flashcards
study of the way such disorder occur
Genetics
study of chromosomes by light microscopy and method by which chromosomal aberrations are identified
Cytogenetics
basic units of hereditary that determine both the physical cognitive characteristics of people
Genes
composed of segment of DNA
Genes
DNA
Deoxyribonucleic Acid
his/her outward appearance or observable characteristics or the expression of genes
Phenotype
his/her actual gene composition. it impossible to predict a person’s genotype from phenotype (outward appearance)
Genotype
Complete set of genes present about 50,000 to 100,000
Genome
normal genome
46 XX, 46 XY
how many contain chromosomes in humans each cell?
46 chromosomes
44 autosomes, 2 sex chromosomes
variant of genes
allele
letter p
short arm disorder
letter q
long arm disorder
result of missing portion of chromosome 5
cri-du-chat syndrome
criduchat syndrome
sound of a cat
small head
wide set eyes
downward slant to the palpebral fissure of eye
recesses mandible
severely cognitively challenge
Australian naturalist, in the 1800s known as
Mendelian law
Gregor Mendel
two healthy genes
(one from mother & one from father)
homozygous
healthy gene from mother
unhealthy gene from father (vice versa)
Heterozygous
An individual with two homozygous genes for dominant trait
homozygous dominant
an individual with two genes for recessive trait
homozygous recessive
how many autosomal dominant disorder known?
more than 3000
majority are not compatible with life after birth
a progressive neurologic disease, characterized by loss of motor control and intellectual deterioration
huntington disease
what are the strategic agendas?
strategic priority
1: save lives
2: promote well-being
3: protect health
4: optimize the health architecture
5. use platforms for health
what are the major complications that account for nearly 75% of all maternal deaths?
- severely bleeding
- infection
- pre eclampsia and eclampsia
- complications from delivery
- unsafe abortion
- malaria
- cardiac diseases
- diabetes
main factors that prevent women from receiving or seeking care during pregnancy and childbirth are:
1.poverty
2. distance to facilities
3. inadequate and poor quality services
4.cultural beliefs and practices
factors of genetic disorder
- genetic homogeneity
- recessive inheritance
one that express its trait even if only one copy of the allele present
Dominant genes- A
only expresses its trait if two copies of the recessive allele are inherited. one from each parent
Recessive genes- aa
disorder of muscle weakness
fascioscapulohumeral muscular dystrophy
disorder which bones are exceedingly brittle
osteogenesis imperfecta
a disorder of connective tissue that result in an individual being thinner and taller than usual and perhaps with associated heart aortic defects.
marfan syndrome
child has 13 extra chromosome and severely cognitively challenged.
most of these children do not survive beyond early childhood
TRISOMY 13 47XY13+/ 47XX13+
or PATAU SYNDROME
trisomy 13 (patau syndrome) presnt disorders are
- cleft lip and palate
- microcephaly
3.micropthalmos - low set ears
5.extra finger and toes
have 3 copies of chromosome 18.
most these children children do not survive beyond infancy
trisomy 18 47XY18+ or 47XX18+
edwards syndrome
trisomy 18 47XY18+ or 47XX18+
edwards syndrome characteristics
- severely cognitively challenge
2.sga - low set ears
- small jaw
5.congenital defects
6.misshapen finger and toes
7.rocker bottom feet
has only one functional X chromosomes
turner syndrome 45X0
gonadal dysgenesis
turner syndrome 45X0
gonadal dysgenesis characteristics
- short in stature
- have small and nonfunctional ovaries
3.exception of pubic hair - neck is short webbed
- low set of ears
turner syndrome 45X0
gonadal dysgenesis can be identified on sonogram during pregnancy thru?
nuchal translucency scan
most common cause of cognitive challenge in males.
one long arm of X chromosomes is defective
fragile syndrome (46XY23Q-)
fragile syndrome (46XY23Q-)
demonstrate maladaptive behaviors such as
hyperactivity
aggresion
autism
reduced intellectual functioning
marked deficits in speech and arithmetic
fragile syndrome (46XY23Q-)
physical findings
- large head
2.long face with high forehead - prominent lower jaw
- large protruding ears
5.obesity
6.hyperextensive joints
7,. cardiac disorder
8. enlarged testicles
most frequently occurring chromosomal disorder
about 1 in 800 pregnancy
higher chance in 35 yrs old 1in 100 live births
Trisomy 21 (47XY21+ or 47XX21+)
down syndrome
Trisomy 21 (47XY21+ or 47XX21+)
down syndrome physical feature
- nose is broad and flat
2.back of head is flat
3.neck is short
4.low set of ears - poor muscle tone
- rag doll appearance
7.finger are short and thick
is a group of inherited red blood cell disorders.
Sickle cell disease (SCD)
usually most severe form of disease
both parent gave sickle cell
hbSS (sickle cell anemia)
milder form of scd
either S or C
hbSC (sickle cell trait or disease variant)
a hemoglobinopathy that causes symptoms similar to those of sickle cell disease, but less severe
hbS beta thalassemia
similar to hbSS
hbS beta 0 thalassemia
cause moderate anemia
some sign of scd
hbS beta + thalassemia
