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.

Overview of Chromosome Abnormalities

Down Syndrome (Trisomy 21)

Trisomy 18 & 13

Turner Syndrome (Monosomy X) in Children

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

Translocation Down Syndrome

Mosaicism

Mosaic Down Syndrome