genetics Flashcards
mosaicism
Mosaicism is a chromosomal disorder in which an altered chromosomal arrangement occurs in some cells but not in others within the same person. The clinical symptoms are generally milder, and the prognosis improves when fewer numbers of cells are involved.
monogenetic
Monogenetic disorders occur when a genetic mutation affects a single gene.
multifactorial genetic disorders
Multifactorial disorders result from a combination of genetic and environmental factors
mitochondrial disorders
occur when the structures that produce energy for a cell (mitochondrial DNA) malfunction, causing mutations.
Sickle Cell anemia stroke protocol
Annual stroke prevention screening of major intracranial vessels with a transcranial Doppler ultrasound evaluation is planned for 2- to 16-year-old children or as long as their bone windows allow meaningful waveforms to be evaluated. A reading of greater than 200 cm/sec time-averaged mean maximal velocity indicates a high risk for stroke and is an indication to start transfusion programs to maintain hemoglobin S levels less than 30%.
Fluorescence in situ hybridization (FISH)
FISH allows identification of the presence or absence of a specific region of a particular chromosome, including subtle missing, additional, or rearranged chromosomal material, by labeling a known chromosome sequence with fluorescent tags to see the location of genetic material.
Williams syndrome
Williams syndrome, which results from a microdeletion of chromosome 7q11.
inconsolable, SUPRAVALVULAR aortic stenosis, lethargic, difficulty finishing bottle
Wiskott-Aldrich syndrome
Wiskott-Aldrich syndrome is an X-linked recessive, immunodeficiency disorder characterized by the clinical triad of thrombocytopenia, eczema (atopic dermatitis), and recurrent infections. In addition, bloody stools and/or hemorrhage are often present as a result of thrombocytopenia, and EBV malignancy ( Burkitt lymphoma) may be part of the clinical presentation in the patient with this syndrome.
