Types

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

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

Translocation Down Syndrome

Mosaicism

Mosaic Down Syndrome

Featured in

Maternity and Newborn

Personalized care starts with the right provider

Search by specialty, location, and more.

Find a Doctor

Read article

Genetic and Congenital Conditions

Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay-Sachs Disease

Overview of autosomal recessive inheritance, including cystic fibrosis, sickle cell anemia, and Tay Sachs disease.

Read article

Genetic and Congenital Conditions

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

Detailed information on structural abnormalities, including chromosome deletions and duplications.

Read article

Genetic and Congenital Conditions

Trinucleotide Repeats: Fragile X Syndrome

Detailed information on trinucleotide repeats, including fragile X syndrome.

Read article

Genetic and Congenital Conditions

Single Gene Defects

Detailed information on single gene defects and patterns of inheritance

Health Centers

Types of Chromosome Abnormalities

Personalized care starts with the right provider

Related Articles

Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay-Sachs Disease

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

Trinucleotide Repeats: Fragile X Syndrome

Single Gene Defects

Types of Chromosome Abnormalities

Choose a preferred language

Personalized care starts with the right provider

Related Articles

Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay-Sachs Disease

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

Trinucleotide Repeats: Fragile X Syndrome

Single Gene Defects