What is wolf syndrome?

What is wolf syndrome?

Wolf-Hirschhorn syndrome (WHS) is a genetic disorder that affects many parts of the body. The major features include a characteristic facial appearance, delayed growth and development, intellectual disability, low muscle tone (hypotonia), and seizures.

Is Trisomy the same as a duplication?

People with a chromosome 4p duplication have a repeat of some of the material on the short arm of one of their chromosomes 4. The other chromosome 4 is the usual size. 4p duplications are sometimes also called Trisomy 4p.

What is cat eye syndrome?

The name “cat eye syndrome” is derived from a distinctive eye (ocular) abnormality that is present in a little over half affected individuals. This defect, known as a coloboma, usually appears as a cleft or gap in the iris below the pupil, and the elongated pupil therefore resembles the appearance of a cat’s eye.

What diseases are caused by chromosomal abnormalities?

Chromosomal disorders

• Down syndrome (Trisomy 21).
• FragileX syndrome.
• Klinefelter syndrome.
• Triple-X syndrome.
• Turner syndrome.
• Trisomy 18.
• Trisomy 13.

How does trisomy happen?

Trisomy is the presence of an extra chromosome. This can arise as a result of non-disjunction, when homologous chromosomes fail to separate at meiosis resulting in a germ cell containing 24 chromosomes rather than 23. Trisomy of any chromosome can occur, but all except trisomies 21, 18, 13, X and Y are lethal in utero.

What happens when you have an extra chromosome 3?

Chromosome 3, Trisomy 3q2 may also be characterized by eye (ocular) abnormalities, limb defects, structural heart malformations (congenital heart defects), or other physical features.

What is chromosome 3 code?

Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 spans almost 200 million base pairs (the building material of DNA) and represents about 6.5 percent of the total DNA in cells….