They have since found out that she had what's known as a chromosomal translocation
and had lost a gene essential for growth in the womb.
Karen Soulard, 61, and her daughter Sarah Pearce, 38, have chromosomal translocation
, which causes chromosomes to arrange unusually making it difficult for a baby to fully develop.
It is characterized by "t" (11:22) (q24;q12) chromosomal translocation
leading to a chimeric transcript EWS-FLI1 formation.
 DFSP tumour cells exhibit a chromosomal translocation
of genes COL1A9 and PGDF p (t17, 22) which encode to alpha chain of type I collagen and beta chain of platelet derived growth factors.
An overlap between common loci for chromosomal translocation
and parental genes involved in intergenic splicing may not be coincidental.
Another key defining feature of all three BL variants is a chromosomal translocation
which juxtaposes the c-MYC oncogene on chromosome 8 and one of the three Ig loci, most frequently the Ig heavy chain locus on chromosome 14 .
The recent identification of a chromosomal translocation
specific to pleuropulmonary synovial sarcoma has increased the recognition of this particular sarcoma subtype.
FISH (fluorescence in situ hybridization) analysis done on sections of the lymph node showed a CCND1-IGH rearrangement, which occurs due to chromosomal translocation
BL is caused by chromosomal translocation
and deregulation of the cMYC oncogene; in nonendemic BL regions, it manifests highly aggressive and fast-growing B-cell malignancy.
The chromosomal translocation
involving the long arms of chromosomes 14 and 18 has been detected cytogenetically in about 90% of follicular lymphomas and 20-30% of diffuse large cell lymphomas (1).
To determine if LOLA produces a specific signal in cultured cell lines with known chromosomal translocation
breakpoints, we used FL cell lines SU-DHL4, SUDHL6, and SU-DHL16 that harbor MBR2, MBR1, and mcr BCL2 breakpoints, respectively (Fig.
The balanced chromosomal translocation
carriers have increased risk for pregnancy losses or having children with mental or physical abnormalities because of unbalanced segmental chromosomal losses and gains.