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.

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Numerical Abnormalities: Overview of Trisomies and Monosomies

Down Syndrome
Trisomy 18 & 13
Turner Syndrome

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

Translocations
Translocation Down Syndrome
Other Arrangements: Rings and Inversions

Mosaicism

Mosaic Down Syndrome

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