Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
26 Cards in this Set
- Front
- Back
|
TORCH Complex
|
major causes of neonatal mobidity and mortality
Complex of signs/symptoms produced by fetal or neonatal infection w/ a variety of microorganisms |
|
|
TORCH- T
|
Toxoplasmosis- women in their childbearing years have antibodies to the organism
|
|
|
TORCH- O
|
syphilis, tuberculosis, listeriosis, leptospirosis, varicella zoster virus, EBV, HIV, Human parvovirus
|
|
|
TORCH-R
|
Rubella- vaccine has reduced congential rubella
|
|
|
TORCH- C
|
Cytomegalovirus- 2/3 of women of childbearing age carry the IgG
|
|
|
TORCH- H
|
Herpes simplex virus- intrauterine infeciton acquired via passage through birth canal; avoided w/ c-section
|
|
|
TORCH Complex patholgical changes
|
Ocular defects, cranium, cadiac anomalies
|
|
|
Congenital syphilis
|
caused by Treponema pallidum
Vertical Transmission Born asymptomatic Form gummas Rhinitis, Hutchinson teeth, maculopapular rash, saber shins, interstitial keratitis, deafness Penicillin drug of choice |
|
|
Fluorescence in Situ Hybridization (FISH)
|
fluorescently labeled DNA probes to identify individual genes or small gene fragments
|
|
|
reciprocal translocation
|
exchange of acentric chromosomal segments between 2 different nonhomologous chromosomes
balanced, at risk for producing offspring w/ unbalanced karyotypes w/ severe phenotypic abnormalities |
|
|
Robertsonian translocation
|
involves the centromere exchange 2 arms to form 1 large metacentric chromosome and small chromosomal fragment
carrier is phenotypically normal but may be infertile |
|
|
Chromosomal deletion
|
loss of a portion of a chromosome and involves either a terminal or a middle segment
|
|
|
haploid
|
single set of each of the chromsomes characteristic of a species; only germ cells have haploid # of chromosomes
|
|
|
diploid
|
double set of each of the chromosomes 2n = 46 in humans
|
|
|
polypoid
|
abnormal increase in number of chromosomes
|
|
|
aneuploid
|
karyotype in a somatic cell of one chromosome of a homologous pair
|
|
|
trisomy
|
presence in somatic cell of an extra copy of a normally paired chromosome
|
|
|
nondisjunction
|
failure of paired chromosomes or chromatids to separate and move to opposite poles of the spindle at anaphase, either during mitosis or meiosis
more common to occur in older women |
|
|
mitotic nondisjunction
|
chromosomal abberations, transmitted selectively through some cell lineages but not through others
2+ different cell lines |
|
|
mosaicism
|
two or more karyotypically different cell lines
autosomal mosaicism is rare, usually lethal involves sex chromosomes |
|
|
Trisomy 21
|
single most common cause of mental retardation
nondijunction in the first meitoic division translocation mosaicism Relation to maternal age incidence increases w/ age |
|
|
Down Syndrome
|
mental status- severe mental retardation; inability to develop advanced cognitive strategies and processs
craniofacial features- face and occiput are flat, low bridged nose, mongolial eyes, brushfield spots, flat occiup, prominent tongue *Congenital Heart disease: determines survival rate; variations in the formation of the venouns inflow tract skeleton: shorter than normal bones, hands are broad and short w/ simian crease GI problems: Hirschsprung disease, duodenal stenosis, imperforate anus Reproductive: male (infertile); some females have given birth Immune: no specific defect, more susceptible to respiratory and other infections Hematological disorders: high risk of leukemia Neurological: more likely to have Alzheimer's |
|
|
Lyon effect
|
one x chromosome is irreversibly inactivated early in embryogenesis in females
some escape inactivation eitehr paternal or maternal X inactivated at random permanent inactivation of x chromsomes is transmitted to progeny cells |
|
|
Extra X Chromosome
|
male and famle children w/ extra X chromsomes
degree of mental retardation shows rough corrrelation w/ number of x chromsomes more xs = higher probability for mental retardation |
|
|
Klinefelter Syndrome
|
One or more X chromosomes in excess of the normal male XY complement
Y chromosome ensures male phenotype hypogonadism and infertility high pitched voice female pattern of pubic hair gynecomastia diabetes mellitus |
|
|
Turner Syndrome
|
Complete or partial monosomy of x-chromosome
ovaries converted to fibrous streaks, short stature, infertility w/ gonadal dysgenesis, renal/cardiac anomalies, protruding ears, uplifted lobules, canthal folds, neck webbing, low posterior hairline, emotional disorders high risk for diabetes mellitus, HTN, dyslipidemia, osteoporosis |
