13q (MM, CLL)
13q (MM, CLL)
د.إ 750.00 د.إ 600.00 Book Now
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13q (MM, CLL)

د.إ 750.00 د.إ 600.00

-20%

13 q(MM,CLL) outcome time: 12 working days

Chromosome 13q deletion is associated with varying phenotypes, which seem to depend on the location of the deleted segment. Although various attempts have been made to link the 13q deletion intervals to distinct phenotypes, there is still no acknowledged consensus correlation between the monosomy of distinct 13q regions and specific clinical features.

 

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Description

Chromosome 13q deletion:

Chromosome 13q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q)of chromosome 13.

The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 13q deletion include developmental delay, intellectual disability, behavioural problems and distinctive facial features

13 q(MM, CLL):

Multiple myelomas (MM) is a plasma cell dyscrasia characterised by frequent 13q deletions and IgH translocations that have clinical prognostic significance. We evaluated clonal plasma cells by interphase fluorescence in situ hybridisation (FISH) and combined with immunofluorescence detection of the cytoplasmic light chain (cIg-FISH) for the presence of 13q deletions and IgH translocations.

The FISH results were compared with conventional cytogenetic analysis. Of the 25 bone marrow specimens from MM patients, 11 (44%) had 13q deletions. IgH translocations involving cyclin D1 (t(11;14)) and FGFR3 (t(4;14)) were found in 32 and 36%, respectively.

CLL: Chronic lymphocytic leukaemia (CLL) is the most common leukaemia in adults, with a highly variable clinical course, ranging from very indolent cases to a very aggressive and rapidly progressing disease (Puiggros et al., 2014). Although a relatively stable genome characterises it, acquired genetic aberrations have an essential role in CLL prognosis.

The most frequent chromosomal abnormalities are partial losses of one affected chromosome (del(6q), del(11q), del(13q) or del(17p)) and gains of entire chromosomes ( trisomy 12).

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