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1. karyotype-the appearance of the chromosomal makeup of a somatic cell in an individual or species (including the number and arrangement and size and structure of the chromosomes). physical composition, composition, make-up, makeup, constitution-the way in which someone or something is composed. Translations.
Down Syndrome. A karyotype is a photograph of the chromosomes in a cell. Karyotypes can be taken from blood cells, fetal skin cells (from amniotic fluid or the placenta), and bone marrow cells. Karyotypes can be used to confirm Down syndrome, which is caused by an extra copy of chromosome number 21. From a patientâs perspective, a karyotype is a simple blood test. But what happens to the blood after it is collected is actually quite complex.