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Types of Chromosome Abnormalities

There are many different types of chromosome abnormalities that require clinical care by a physician or other healthcare professional. Listed in the directory below are some, for which we have provided a brief overview.

Numerical Abnormalities: Overview of Trisomies and Monosomies

Down Syndrome (Trisomy 21)

Trisomy 18 & 13

Turner Syndrome

Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)


Translocation Down Syndrome

Other Arrangements: Rings and Inversions


Mosaic Down Syndrome


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