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.
prader- willi
Prader-Willi syndrome (PWS) is a complex genetic condition that affects many parts of the body. It is a chromosome disorder caused by the absence of a group of genes on chromosome 15. Characteristics include poor feeding and growth, hypotonia, developmental delays, and behavioral problems. Short stature and central obesity are also common in childhood.
angelman syndrome
Angleman syndrome is the result of an alteration (a gain or a loss) of genetic material from 15q11.2-13 in the maternally inherited allele (most commonly caused by a deletion in the maternally-derived copy of chromosome 15). This is the same chromosome that is affected in Prader-Willi syndrome (the result of alteration in the paternally inherited allele).
Characteristics of Angelman syndrome include developmental delay, lack of speech, seizures, and disorders affecting walking and balance. In addition, these patients frequently exhibit spontaneous persistent social smiling and fits of laughter, hand flapping, abnormal sleep, and often love the water.
arms held high/flexed elbows
huntingtons disease
Huntington disease
This type of single genetic disorder is characterized by the inheritance of a single copy of a mutated gene located on one of the autosomal chromosomes. Huntington disease is
VACTERL
VACTERL syndrome consists of:
Vertebral dysgenesis
Anal atresia (imperforate anus)
Cardiac anomalies
TracheoEsophageal fistula
Renal anomalies
Limb anomalies
Associated conditions include congenital heart disease, EA, intestinal atresia, annular pancreas, intestinal malrotation or duplication, bilateral absence of the musculus rectus abdominis, trisomy 21, finger and hand anomalies, omphalocele, bladder exstrophy, and exstrophy of the ileocecal area.
predictive genetic testing
Predictive genetic testing, such as certain prenatal screenings, involves testing healthy people who are at risk of developing a genetic disorder based on factors such as family history, age, and ancestral or ethnic background.
