Genetics Flashcards
(70 cards)
Chromosome studies are usually done from a small sample of tissue from a person’s body which may be ___, ____ or ____
a blood sample, skin biopsy or other tissues
_____ is the study of chromosomes
Cytogenetics
Four studies in cytogenetics
Karyotyping, Extended banding chromosome studies (EBCS), Fluorescence in-situ hybridization (FISH), Chromosomal micro array testing
Which study looks for abnormal amount or shape of chromosome by staining the chromosomes?
Karyotyping
Which studies are also known as high resolution studies which looks at chromosomes in more detail and chromosomes are prepared so that more bands are seen?
Extended banding chromomse studies (EBCS)
Which study can find chromosomal defects with more accuracy than FISH and EBCS?
Chromosomal micro array testing
In ____ cells in the sample are stained with fluorescent dye that will only attach to part of the chromosome and the cells are then viewed with a microscope using a special light.
Fluorescence in-situ hybridisation (FISH)
In karyotyping, chromsomes look like ____
strings with light and dark stripes called bands
Which study can find some abnormal changes that can’t be seen with normal cytogenic testing?
Fluorescence in-situ hybridisation (FISH)
In Fluorescence in-situ hybridisation (FISH), test from a baby with down syndrome will have how many brightly coloured parts?
3 brightly coloured parts
In Chromosomal micro array testing, which dye is applied to the sample tissue?
Fluorescent dye
Nine examples of conditions in medical genetics.
birth defects, dysmorphology, intellectual disability, autism, mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics and prenatal diagnosis
____ is a medical specialty with particular attention to hereditary disorders
Clinical genetics
A branch of clinical genetics is
Prenatal genetics
Which medical specialty is concerned with birth defects, developmental disability, autism and epilepsy, short stature and skeletal displacement?
Paediatric genetics
Which medical specialty is concerned with cardiomyopathy and Cardiac arrhythmia, inherited Kidney disease, dementia and neuro degeneration, connective tissue?
Adult genetics
Six examples of metabolic disorders:
galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis, phenylketonuria, and urea cycle disorders.
Examples of genetic syndromes that are commonly seen in genetic querying are Chromosomal rearrangement, 8 examples
Down Syndrome, Turner’s Syndrome, Williams Syndrome, Fragile X Syndrome, Marfan Syndrome, Neurofibromatosis, Huntington’s disease, familial adenomatous polyposis
The study of chromosomes and chromosome abnormalities is
cytogenetics
Aneuploidy, chromosomal re-arrangement and genomic divisions/duplication disorder are examples of
chromosome abnormalities
____ involves the discovery of, and, laboratory testing for DNA mutations that underlie mainly single gene disorders
Molecular genetics
Achondroplasia, cystic fibrosis, Duchenne muscular dystrophy, hereditary breast cancer, Huntington’s disease, Marfan’s syndrome, Noonan syndrome, Rett syndrome are examples of
single gene disorders
_____ are also used in the diagnosis of syndromes involving abnormalities such as Angelman syndrome, Beckwith-Wiedemann syndrome, Prader Willis syndrome, Uniparental disomy
Molecular tests
_____ is concerned with the diagnosis and management of mitochondrial disorders, which has a molecular basis but often result in biochemical abnormalities due to deficient energy production
Mitochondrial genetics
