balanced translocation

Most balanced translocation carriers are healthy and do not have any symptoms.

No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems.

The balanced translocation figure shows a 14/21 translocation, where the other chromosomes are not shown.

The parent is usually unaffected but carries a chromosomal rearrangement called a balanced translocation.

This rearrangement is called a balanced translocation because there is no extra material from chromosome 13.

In most cases, chromosome 10, distal trisomy 10q is due to a chromosomal balanced translocation in one of the parents.

Infertility: one of the would-be parents carries a balanced translocation, where the parent is asymptomatic but conceived fetuses are not viable.

In these cases, a chromosomal rearrangement in the parents is called a balanced translocation, in which no genetic material is gained or lost.

For example, Slade et al. applied this method to fine map a de novo balanced translocation in a child with Wilms' tumor.

In most cases, Chromosome 6, Partial Trisomy 6q has been the result of a balanced translocation in one of the parents.

A balanced translocation or Robertsonian translocation in one of the partners leads to unviable fetuses that are aborted spontaneously.

Although they do not have signs of Patau syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition.

In some cases, a metacentric chromosome is formed by balanced translocation: the fusion of two acrocentric chromosomes to form one metacentric chromosome.

The remaining 10-15% are due to unequal segregation of a parental balanced translocation where the 5p monosomy is often accompanied by a trisomic portion of the genome.

Downs is often the product of one parent carrying a balanced translocation of the 21 chromosome which then results in the trisomy of 21 aka Downs.

Translocation Down syndrome can be de novo; that is, not inherited but occurring at the time of an individual's conception, or may be inherited from a parent with a balanced translocation.

Its official full name is meningioma (disrupted in balanced translocation) 1 because it is disrupted by a balanced translocation (4;22) in a meningioma.

Chromosomal analysis and genetic counseling are typically recommended for parents of an affected child to help confirm or exclude the presence of Chromosome 15 Ring, potential mosaicism, or a balanced translocation in one of the parents.

For example, one reported finding suggests that in persons diagnosed as schizophrenic as well as in their relatives with chronic psychiatric illnesses, the gene that encodes phosphodiesterase 4B (PDE4B) is disrupted by a balanced translocation.

PGD is available for a large number of monogenic disorders -that is, disorders due to a single gene only (autosomal recessive, autosomal dominant or X-linked)- or of chromosomal structural aberrations (such as a balanced translocation).

Haploinsufficiency of SIM1 has been shown to cause severe early-onset obesity in a human girl with a de novo balanced translocation between chromosomes 1p22.1 and 6q16.2 and has been suggested to cause a Prader-Willi-like phenotype in other cases.