Interstitial deletion of chromosome 13 involving the region 13q14

1987 ◽  
Vol 77 (3) ◽  
pp. 292-293 ◽  
Author(s):  
R. Pankau ◽  
W. Johannson ◽  
W. Grote ◽  
K. Dörner ◽  
M. Tolksdorf
Keyword(s):  
Interstitial Deletion ◽  
Chromosome 13

Tall stature and minor facial dysmorphisms in a patient with a 17.5???Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review

2007 ◽  
Vol 16 (4) ◽  
pp. 279-282 ◽  
Author(s):  
Bregje W.M. van Bon ◽  
David A. Koolen ◽  
Ilse Feenstra ◽  
Ineke Neefs ◽  
Rolph Pfundt ◽  
...  
Keyword(s):  
Interstitial Deletion ◽  
Tall Stature ◽  
Clinical Report ◽  
Chromosome 13 ◽  
Facial Dysmorphisms

Coordinate Interstitial Deletion of Retinoblastoma (RB1) and Neurobeachin (NBEA) Is a Recurring Event in Multiple Myeloma.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 2480-2480
Author(s):  
Julie O’Neal ◽  
AnnaLynn Molitoris ◽  
Feng Gao ◽  
Anjum Hassan ◽  
Ryan Monahan ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Cell Lines ◽  
Copy Number ◽  
Plasma Cells ◽  
Interstitial Deletion ◽  
Oligonucleotide Array ◽  
Comparative Genomic ◽  
Copy Number Loss ◽  
Dna Copy Number ◽  
Chromosome 13

Abstract Monoallelic chromosome 13 deletion detected by cytogenetics predicts poor patient survival in multiple myeloma (MM), but the genes responsible have not been conclusively identified. To this end, we performed array comparative genomic hybridization (aCGH) using a novel, human chromosome 13 oligonucleotide array (Nimblegen) with 385,272 probes and median probe spacing of 60 base pairs. The dense coverage, and the use of germline DNA collected from each patient as internal controls for DNA copy number polymorphisms, enabled unprecedented map resolution of somatic DNA gains and losses on chromosome 13. Array CGH was performed on genomic DNA isolated from CD138+ bone marrow plasma cells purified from 20 patients with MM, monoclonal gammopathy of undetermined significance (MGUS), or amyloidosis. Visual analysis of the aCGH data identified 4 patients with chromosome 13 interstitial deletions that were confirmed using a circular binary segment algorithm (Nimblegen). Monosomy chromosome 13 was detected in 5 patients by cytogenetics, and as expected, appeared normal by aCGH due to data normalization. We also performed an unsupervised analysis of the data, which identified 49 genes with DNA copy number decreases. Both methods identified copy number decreases at 13q14 commonly affected in MM and MGUS patients and thought to harbor a relevant tumor suppressor. Three of the 4 patients with interstitial deletions at 13q14 had striking regions of DNA copy loss whose minimally deleted region was defined by a patient with a small deletion spanning exon 20 of RB1, encoding part of the functionally important ‘pocket domain’ responsible for binding E2F transcription factors. We found RB1 protein levels in MM cell lines correlated with RB1 genomic copy number, and therefore considered the model that RB1 haploinsufficiency contributes to MM. However, we found Rb1 heterozygous (HET) and wild type (WT) mice had indistinguishable steady-state B, T and myeloid compartments in addition to plasma cell induction in response to sheep red blood cell stimulation. Disease burden was similar in HET vs. WT Rb1 mice in a model of NRAS induced tumorigenesis. These results suggest other genomic events cooperate with RB1 copy number loss in MM. Unexpectedly, we found the 3 patients that had an interstitial deletion of RB1 at 13q14 concomitantly harbored a separate interstitial loss at 13q13. Every patient with DNA copy number loss of RB1 also had DNA copy loss within 13q13 (5 patients who lost the entire chromosome and 3 patients with interstitial deletions). The minimally deleted region at 13q13 mapped to the 5′ end of Neurobeachin (NBEA), which encodes a Protein Kinase A (PKA) anchoring protein. We detected NBEA transcripts at low levels in normal human plasma cells. NBEA transcripts and protein were robustly expressed in 3/5 MM cell lines. This is the first report of coordinate copy number loss of RB1 and NBEA on chromosome 13 in MM. Taken together, our data suggest that chromosome 13 deletions in MM may target protein dose level of RB1 and at least one other gene, likely NBEA. Our data provide a novel rationale for future studies to examine the biological consequences of coordinate loss of NBEA and RB1.

An interstitial deletion of the long arm of chromosome 13

2008 ◽  
Vol 35 (4) ◽  
pp. 276-281 ◽  
Author(s):  
B. Roland ◽  
R. B. Lowry ◽  
A. S. Robertson ◽  
D. M. Cox
Keyword(s):  
Interstitial Deletion ◽  
Chromosome 13

scholarly journals Interstitial deletion of chromosome 13: prognosis and adult phenotype.

1991 ◽  
Vol 28 (8) ◽  
pp. 533-535 ◽  
Author(s):  
J C Dean ◽  
S Simpson ◽  
D A Couzin ◽  
G S Stephen
Keyword(s):  
Interstitial Deletion ◽  
Chromosome 13

Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13

1998 ◽  
Vol 77 (4) ◽  
pp. 285-288 ◽  
Author(s):  
Brenda J. Weigel ◽  
Mary Ella M. Pierpont ◽  
Terri L. Young ◽  
Scott B. Mutchler ◽  
Joseph P. Neglia
Keyword(s):  
Hirschsprung Disease ◽  
Interstitial Deletion ◽  
Chromosome 13

Interstitial Deletion of the Long Arm of Chromosome 13 and Retinoblastoma

1984 ◽  
Vol 26 (4) ◽  
pp. 590-594
Author(s):  
Shozo Ohdo ◽  
Tohru Sonoda ◽  
Harumichi Madokoro ◽  
Kunio Hayakawa
Keyword(s):  
Interstitial Deletion ◽  
Chromosome 13

Interstitial deletion (2)(q11.2-q21) in a newborn with multiple malformations

2006 ◽  
Vol 37 (06) ◽  
Author(s):  
G Strobl-Wildemann ◽  
F Staudt ◽  
C Schmidtlein ◽  
U Heinrich
Keyword(s):  
Interstitial Deletion

scholarly journals Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin

2021 ◽  
Vol 60 (4) ◽  
pp. 771-774
Author(s):  
Chih-Ping Chen ◽  
Chen-Yu Chen ◽  
Schu-Rern Chern ◽  
Shin-Wen Chen ◽  
Fang-Tzu Wu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Ring Chromosome ◽  
Maternal Origin ◽  
Chromosome 13

A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum

1994 ◽  
Vol 3 (4) ◽  
pp. 296 ◽  
Author(s):  
M. GENUARDI ◽  
F. CALVIERI ◽  
C. TOZZI ◽  
R. COSLOVI ◽  
G. NERI
Keyword(s):  
Corpus Callosum ◽  
Interstitial Deletion
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