Where do Robertsonian translocations occur?

Robertsonian translocations occur between two acrocentric chromosomes, which are chromosomes in which the centromere is close to one end of the chromosome, resulting in a small (p for petit) length of genetic material beyond the centromere.

What are the effects of Robertsonian translocation?

Effect on fertility If you or your partner carry a Robertsonian translocation, you may be at a higher risk for infertility or miscarriage. And when people with this translocation carry a child to term, the child may be at a higher risk for chromosomal imbalance.

What is the difference between translocation and Robertsonian translocation?

In a reciprocal translocation, two different chromosomes have exchanged segments with each other. In a Robertsonian translocation, an entire chromosome attaches to another at the centromere.

How is Robertsonian translocation diagnosed?

Robertsonian translocation type trisomy 13 can be detected by prenatal diagnosis technology, which inclue molecular cytogenetics and traditional karyotype analysis.

What happens to P arm in Robertsonian translocation?

In Robertsonian translocation, the two long arms of two separate acrocentric chromosomes fuse to create one chromosome. The short arms are usually lost.

What is the risk of Down syndrome if mother or father carries Robertsonian translocation?

The observed figures for Robertsonian translocation carriers involving chromosome 21 having a live born baby with Down syndrome are 10% if the mother is the translocation carrier, and 2.5% if the father is the translocation carrier.

What is a mild case of Down syndrome?

People with mosaic Down syndrome have a mixture of cells. Some have two copies of chromosome 21, and some have three. Mosaic Down syndrome occurs in about 2 percent of all Down syndrome cases. People with mosaic Down syndrome often, but not always, have fewer symptoms of Down syndrome because some cells are normal.

What is the size of chromosome 14?

Chromosome 14 spans more than 107 million DNA building blocks (base pairs) and represents about 3.5 percent of the total DNA in cells. Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies.

What is chromosome 13?

Chromosome 13 is made up of about 115 million DNA building blocks (base pairs) and represents between 3.5 and 4 percent of the total DNA in cells. Identifying genes on each chromosome is an active area of genetic research.

What is the short arm of a chromosome called?

Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q”. Chromosomes are further subdivided into bands that are numbered. For example, “13q32” refers to band 32 on the long arm of chromosome 13.

What are the treatment options for chromosome 13 (C 13q)?

Such a team approach may include special remedial education, physical therapy, and other medical, social, or vocational services. Genetic counseling will be of benefit for families of children with Chromosome 13, Partial Monosomy 13q.