Chromosomal Abnormalities
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6 Terms
How many chromosomes are present in a human cell, excluding gametes?
46 chromosomes (23 pairs), with one chromosome from each pair inherited from each parent.
What are autosomal chromosomes and heterosomes?
Autosomal chromosomes are chromosomes numbered 1-22.
Heterosomes are the sex chromosomes, X and Y.
How many chromosomes are present in oocytes and spermatozoa?
23 chromosomes – 22 autosomes and one X or Y chromosome.
What is a mosaic disorder?
A mosaic disorder occurs when chromosomal changes are present in some cells but not all,
often arising during gametogenesis or shortly after conception.
What are the main causes of chromosomal disorders?
Chromosomal disorders can result from extra or missing chromosomes, structural abnormalities (e.g., ring chromosomes, translocations), or inheritance of both chromosome copies from one parent.
What are common prenatal tests for detecting chromosomal changes?
Screening tests to assess risk and diagnostic tests (prenatal or postnatal) to confirm chromosomal disorders.