karyotype- chromosomes of a person that's photographed at metaphase and arranged in order
autosomes- chromosomes 1-22; not sex chromosomes
sex chromosomes- chromosomes that determine the sex; X and Y chromosomes
translocation- chromosomal abnormality in which a chromosomal segment is transferred to a nonhomologous chromosome
duplication- chromosomal abnormality in which a chromosomal segment is duplicated and present in more than one copy within the chromosome
deletion- chromosomal abnormality in which a chromosomal segment is missing
amniocentesis- 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 pregnancy
chorionic 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 pregnancy
polyploidy- chromosomal number that is multiple of normal haploid chromosomal set
aneuploidy- chromosomal number that is not exact multiple of normal haploid chromosomal set
monosomy- one member of chromosomal pair is missing; 2n-1
trisomy- an extra member of chromosomal pair is present; 2n+1
dispermy- fertilization of egg by two sperms, making a triploid zygote
triploidy- condition in which there are three copies of all autosomes and sex chromosomes
tetraploidy- condition in which there are four copies of all autosomes and sex chromosomes
non-disjunction- failure of homologous chromosomes to separate during mitosis or meiosis
Trisomy 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...