chromosomal deletion

The symptoms may vary, depending on the exact location of the chromosomal deletion.

TRPS2 is due to the absence of genetic material (chromosomal deletions) on chromosome 8.

The presence of other chromosomal deletions in colorectal cancer suggests that several more tumour suppressor genes have yet to be identified.

These examples illustrate the central problem of characterising chromosomal deletions - how do you know when you have identified the target gene?

Chromosomal deletions, specifically the chr 2q37 deletion (brachydactyly-mental retardation syndrome)

Chromosome engineering is "the controlled generation of chromosomal deletions, inversions, or translocations with defined endpoints."

Some of the sporadic cases of aniridia are caused by large chromosomal deletions that also include the Wilms tumor gene - WT1.

As the 18q chromosomal deletions were never resolved to be related solely to another gene, DCC was rapidly reaccepted as a candidate.

These results show that the pct1Δ and pce1Δ strains are viable if the chromosomal deletions are complemented by an extrachromosomal triphosphatase or guanylyltransferase gene.

Loss of tumour suppressor function requires inactivation of both alleles, usually by chromosomal deletion or point mutation, or both.

A small percentage of people with Smith-Magenis syndrome have a mutation in the RAI1 gene instead of a chromosomal deletion.

She showed that the loss of ring-chromosomes at meiosis caused variegation in maize foliage in generations subsequent to irradiation resulting from chromosomal deletion.

Shortly after the album's release, Hayden and his wife had their first child, who was born with a rare chromosomal deletion syndrome, causing him to consider giving up music entirely.

By combining chromosomal translocation, chromosomal inversion,and chromosomal deletion, chromosome engineering has been shown to identify the underlying genes that cause certain diseases in mice.

An amorphic allele elicits the same phenotype when homozygous and when heterozygous to a chromosomal deletion or deficiency that disrupts the same gene.

Loss of heterozygosity in cancer can occur either because of chromosomal deletion or somatic recombination resulting in uniparental disomy [ 37 ] .

That chase ended last year, with the identification of the one small chromosomal deletion responsible for the disease, and proved to be one of the triumphs of medical genetics.

Children with these chromosomal deletions may also have mental retardation, slow growth, and characteristic facial features (such as prominent eyebrows, a broad nasal bridge, a short nose, and ear abnormalities).

In unbalanced forms, Robertsonian translocations cause chromosomal deletions or addition and result in syndromes of multiple malformations, including trisomy 13 (Patau syndrome) and trisomy 21 (Down syndrome).

This second definition is also sometimes applied to the situation where two different chromosomal deletions exist in trans (on the different homologous chromosomes) and fail to complement because they disrupt one or more common genes.

These enzymes are termed 'APOBEC' and have genetic loci at 22q13, a region close to the chromosomal deletion which occurs in velocardiofacial syndrome (22q11) and which is linked to psychosis.

In particular, medulloblastmas/PNETs may possibly be differentiated cytogenetically from AT/RTs as chromosomal deletions of 17p are relatively common with medulloblastoma and abnormalities of 22q11.2 are not seen.

The most severe problems are caused by chromosomal deletions in the region of the NDP gene, causing the prevention of the gene product, or even that of the neighboring MAO genes.

Since chromosomal deletion can affect more than one gene, M6P/IGF2R loss of heterozygosity alone does not rule out the possibility that other adjacent genes also have a tumor suppressor function in head and neck cancer.

This came about primarily as a result of Sophie's experiences with her daughter, Annie, who has severe learning difficulties as a consequence of a unique chromosomal deletion, and the challenges she came across in accessing information on learning difficulties.