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

Numerical Abnormalities: Overview of Trisomies and Monosomies

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

Mosaicism

Down Syndrome (Trisomy 21)

Trisomy 18 & 13

Turner Syndrome

Translocations

Translocation Down Syndrome

Mosaic Down Syndrome