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 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