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