ROSETE, HEAVEN ANGEL BLESS A. S.N
MCHN REVIEWER
PAGE 1
ANSWERS
DEFINITION
Genetics
study of the way such disorders occur.
Chromosomes
threadlike structure of nucleic acid.
Cytogenetics
the study of chromosomes.
Genes
are the basic units of heredity that determine both the
physical and cognitive characteristics of people.
are the basic units of heredity that determine both the
physical and cognitive characteristics of people.
Phenotype
refers to his or her outward appearance or the expression of genes.
Genotype
refers to his or her actual gene composition.
Genome
is the complete set of genes present (about 50,000 to 100,000).
Mendellian Inheritance
dominant and recessive patterns.
Gregor Mendel
father of genetics.
Homozygous
two like genes for a trait
Heterozygous
differ genes(one from healthy gene and other from unhealthy gene.
Newborn Screening
is an essential public health strategy enables the early detection and
management of several congenital disorders, which is left untreated,
may lead to mental retardation and/or death.
Diseases detected in
newborn screening
Congenital Hypothyriodism
Congenital adrenal hyperplasia
Phenylketonuria
Maple Syrup Urine Disease
Galactosema
Glucose 6 - Phosphate
Trisomy 13 sydrome
patau syndrome, the child has an extra chromosome13.
Trisomy 18 syndrome
edward’s syndrome, have three copies of chromosomes 18.
CRI-DU-CHAT
missing portion of chromosome 5.
Turner syndrome
gonadal dysgenesis.
Klinefelter syndrome
has two x chromosomes.
Fragile X syndrome
most common in males.
Down syndrome
(Trisomy 21)
most frequently occuring.
CHAPTER 7: THE NURSING ROLE IN GENETIC ASSESSMENT AND COUN SELING
