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

Types of Chromosome Abnormalities

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

How Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, Environment

Chance a Chromosome Abnormality Will Occur Again: Numerical, Structural (Inherited and De Novo), Mosaicism