Study Notes On Cytogenetics Essay

814 words - 3 pages

karyotype- chromosomes of a person that's photographed at metaphase and arranged in orderautosomes- chromosomes 1-22; not sex chromosomessex chromosomes- chromosomes that determine the sex; X and Y chromosomestranslocation- chromosomal abnormality in which a chromosomal segment is transferred to a nonhomologous chromosomeduplication- chromosomal abnormality in which a chromosomal segment is duplicated and present in more than one copy within the chromosomedeletion- chromosomal abnormality in which a chromosomal segment is missingamniocentesis- method of sampling the fluid surrounding in the fetus by inserting a hollow needle and collecting fluid to diagnose a fetal genetic and developmental disorders; performed in 16th week of pregnancychorionic villus sampling- method of sampling fetal chorionic cells by inserting catheter through vagina or abdominal wall into uterus to diagnose biochemical and cytogenetic defects in embryo; performed in 8th and 9th week of pregnancypolyploidy- chromosomal number that is multiple of normal haploid chromosomal setaneuploidy- chromosomal number that is not exact multiple of normal haploid chromosomal setmonosomy- one member of chromosomal pair is missing; 2n-1trisomy- an extra member of chromosomal pair is present; 2n+1dispermy- fertilization of egg by two sperms, making a triploid zygotetriploidy- condition in which there are three copies of all autosomes and sex chromosomestetraploidy- condition in which there are four copies of all autosomes and sex chromosomesnon-disjunction- failure of homologous chromosomes to separate during mitosis or meiosisTrisomy 13- presence of an extra copy of chromosome 13 (47, +13)Trisomy 18- presence of an extra copy of chromosome 18 (47, +18)Trisomy 21- presence of an extra copy of chromosome 21 (47, +21)Turner syndrome- monosomy of X chromosome (45, X)Klinefelter syndrome- aneuploidy of sex chromosomes involving XXY condition (47, XXY)XYY karyotype- Jacob's syndrome; aneuploidy of sex chromosomes involving XYY conditioninversion- chromosomal abnormality in which a chromosomal segment has been rotated 180°cri du chat syndrome- deletion of 5p, characterized by an infant cry that resembles a catPrader- Willi syndrome- deletion of 15q, characterized by slow growth in infants and uncontrolled eating and obesity in children and adultsreciprocal translocation- when two nonhomologous chromosomes exchange informationRobertsonian translocation- breakage of p arms of acrocentric chromosomes followed by fusion with q arm into a single chromosomeuniparental disomy- when both copies of chromosomes are inherited from one parentfragile X- X chromosome that has a break at q27; associated with mental retardation in malesAmniocentesis is usually...

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