Study Notes on Cytogenetics

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- …

…compulsive eaters. Amniocentesis and chorionic villus sampling are techniques to detect genetic defects in a baby. CVS can be performed earlier and the cells extracted can be used immediately for analysis. Amniocentesis's cells needs to be grown on a culture before it's ready for analysis. Fragile X has a break at the tip of the long arm on the X chromosome. It can cause long, narrow faces, protruding chins, and large ears, and mental retardation.