De Novo Ring Chromosome 15: Molecular Cytogenetic and Clinical Characterization of First Case from Saudi Arabia

2020 ◽  
Author(s):  
Amal Alhashem ◽  
Saria Alazmeh ◽  
Ayla Barakat ◽  
Ahmed Alfares ◽  
Hatem Elghezal
Keyword(s):  
De Novo ◽  
Ring Chromosome ◽  
Chromosome 15 ◽  
Chromosomal Disorder ◽  
First Case ◽  
Café Au Lait Spots ◽  
New Findings ◽  
Crossed Fused Renal Ectopia ◽  
Variable Presentation

AbstractRing chromosome 15 is a rare chromosomal disorder, which usually occurs during early embryonic development via spontaneous errors and has variable presentation. To date, 89 cases of this condition have been reported. This case report describes a 5-year-old Saudi boy who was diagnosed as having de novo 46,XY,r(15). The patient presented with short stature, speech delay, café au lait spots, and facial dysmorphic features, together with new findings of left crossed fused renal ectopia and 11 ribs. This presentation was compared with the findings of cases reported previously.

Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients

2004 ◽  
Vol 130A (4) ◽  
pp. 340-344 ◽  
Author(s):  
Z. Tümer ◽  
T.L. Harboe ◽  
E. Blennow ◽  
V.M. Kalscheuer ◽  
N. Tommerup ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 15 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

scholarly journals Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

2009 ◽  
Vol 2 (1) ◽  
pp. 8
Author(s):  
Sofia Kitsiou-Tzeli ◽  
Emmanouil Manolakos ◽  
Magdalini Lagou ◽  
Katerina Anagnostopoulou ◽  
Maria Kontodiou ◽  
...  
Keyword(s):  
De Novo ◽  
Ring Chromosome ◽  
Normal Male ◽  
Chromosome 20

scholarly journals Prenatal diagnosis of a new case: De novo balanced non-Robertsonian translocation involving t(15;22)(p11.2;q11.2)

2018 ◽  
Vol 21 (2) ◽  
pp. 69-72
Author(s):  
Eİ Atli ◽  
H Gurkan ◽  
E Atli ◽  
H Tozkir ◽  
GF Varol ◽  
...  
Keyword(s):  
Robertsonian Translocation ◽  
De Novo ◽  
Chorionic Villus ◽  
Comparative Genomic ◽  
Chromosome 22 ◽  
Chromosome 15 ◽  
Unusual Event ◽  
First Case ◽  
Unusual Phenomenon ◽  
Acrocentric Chromosomes

Abstract The balanced non-Robertsonian translocation (ROB) associated with acrocentric chromosomes is an unusual phenomenon. We report the case of rare non-ROB involving chromosomes 15 and 22 with cytogenetic and molecular cytogenetic findings of 46,XY,t(15;22)(p11.2;q11.2). To the best of our knowledge, t(15;22) is the first report of this breakpoint that is not the usual non-ROB. The karyotype of the chorionic villus cell was 46,XY,t(15;22)(p11.2; q11.2) from two different initial cultures. This is different from the usual non-ROB of acrocentric chromosomes. Comparative genomic hybridization has been performed to determine the chromosomal origin. Non-Robertsonian translocation associated with acrocentric chromosomes is an unusual event and only a few cases have been reported. In this study, we observed acrocentric chromosomes 15 and 22 as a rarely balanced non-ROB, where satellites of chromosome 15 translocated to chromosome 22 and part of chromosome 22 were translocated to chromosome 15. To the best of our knowledge, our patient is the first case reported in the literature for this translocation in prenatal and postnatal periods.

Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia

2007 ◽  
Vol 27 (5) ◽  
pp. 471-474 ◽  
Author(s):  
Elghezal Hatem ◽  
Ben Rekaya Meriam ◽  
Denguezli Walid ◽  
Moussa Adenen ◽  
Gribaa Moez ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Diaphragmatic Hernia ◽  
Growth Retardation ◽  
Ring Chromosome ◽  
Chromosome 15 ◽  
Uterine Growth ◽  
Intra Uterine Growth Retardation

Molecular Characterization of the T(14;18)(q32;q21) Involving the IGH Locus and the MALT1 Gene in MALT Lymphomas

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 4145-4145
Author(s):  
Eva Maria Murga Penas ◽  
Evelyne Callet-Bauchu ◽  
Nadine Albert ◽  
Sophie Gazzo ◽  
Françoise Berger ◽  
...  
Keyword(s):  
Malt Lymphoma ◽  
De Novo ◽  
Molecular Genetic ◽  
Molecular Characteristics ◽  
Coding Region ◽  
Long Distance ◽  
Igh Locus ◽  
First Case ◽  
Igh Genes

Abstract The t(14;18)(q32;q21) involving the MALT1 and IGH genes is a recurrent abnormality in MALT lymphomas. So far, molecular genetic characterization of the t(14;18)/IGHMALT1 has only been performed in 2 cases and revealed a fusion of the entire coding region of MALT1 to the IGH locus. We herein report the molecular genetic analyses of 2 new cases of MALT lymphoma harboring the t(14;18)/IGH-MALT1 using fluorescence in situ hybridization (FISH) and we determined the molecular characteristics at the IGH-MALT1 junctions using long-distance PCR (LD-PCR). The first case, a 71-year-old female, presented with an extranodal MALT lymphoma of the conjunctiva, stage IEA. The second case, a 53-year-old-male patient, was diagnosed as having a MALT lymphoma originating from the lung. FISH with PAC clones 117B5 and 59N7 revealed a translocation involving MALT1. Further FISH assays with probes hybridizing to MALT1 and IGH showed the t(14;18)(q32;q21)/IGH-MALT1. By FISH with specific probes for the P53, P16, RB1, and ATM genes no deletions of these genes were found. The IGH-MALT1 fusion was confirmed by LD-PCR on patients’ DNA with nested primers for the MALT1 and IGH genes. Cloning and sequencing of the purified PCR products revealed a fusion of sequences upstream of the coding region of MALT1 to the JH segment of the IGH locus in both cases. The breaks on chromosome 18 were located in the 5′ non-coding region of MALT1, only 13 nucleotides apart from each other. The breaks at IGH were located in the JH4 joining segment in both cases and showed features of a V(D)J-mediated recombination. Deletion and “de novo” nucleotides additions at the point of joining were observed in case 1. Furthermore, a detailed analysis of the “de novo” nucleotides additions in this case revealed the presence of DH segments of the DH gene D3-10 in the JH/MALT1 junction. Our findings indicate that the pathomechanism underlying the t(14;18)/IGH-MALT1 in MALT lymphomas is probably based on an illegitimate V(D)J recombination at IGH, similar to other IGH-associated translocations, such as the t(14;18)/IGH-BCL2 in follicular lymphomas and the t(11;14)/CCND1-IGH in mantle cell lymphomas and that the events leading to the t(14;18)/IGH-MALT1 might take place during an initial DH-to-JH or a later VH-to-DJH joining.

Identification and Molecular Characterization of a de novo Supernumerary Ring Chromosome 18 in a Patient with Klippel-Trenaunay Syndrome

2004 ◽  
Vol 68 (4) ◽  
pp. 353-361 ◽  
Author(s):  
A. Anil Timur ◽  
Azita Sadgephour ◽  
Michael Graf ◽  
Stuart Schwartz ◽  
Eric D. Libby ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Ring Chromosome ◽  
Chromosome 18 ◽  
Klippel Trenaunay Syndrome ◽  
Ring Chromosome 18

scholarly journals Pancytopenia, Recurrent Infection, Poor Wound Healing, Heterotopia of the Brain Probably Associated with A Candidate Novel de Novo CDC42 Gene Defect: Expanding the Molecular and Phenotypic Spectrum

Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 294
Author(s):  
Abdulaziz Asiri ◽  
Deemah Alwadaani ◽  
Muhammad Umair ◽  
Kheloud M. Alhamoudi ◽  
Mohammed H. Almuhanna ◽  
...  
Keyword(s):  
Wound Healing ◽  
Molecular Mechanisms ◽  
Rho Gtpase ◽  
De Novo ◽  
Functional Characterization ◽  
Substantial Reduction ◽  
Recurrent Infection ◽  
First Case ◽  
The Brain

CDC42 (cell division cycle protein 42) belongs to the Rho GTPase family that is known to control the signaling axis that regulates several cellular functions, including cell cycle progression, migration, and proliferation. However, the functional characterization of the CDC42 gene in mammalian physiology remains largely unclear. Here, we report the genetic and functional characterization of a non-consanguineous Saudi family with a single affected individual. Clinical examinations revealed poor wound healing, heterotopia of the brain, pancytopenia, and recurrent infections. Whole exome sequencing revealed a de novo missense variant (c.101C > A, p.Pro34Gln) in the CDC42 gene. The functional assays revealed a substantial reduction in the growth and motility of the patient cells as compared to the normal cells control. Homology three-dimensional (3-D) modeling of CDC42 revealed that the Pro34 is important for the proper protein secondary structure. In conclusion, we report a candidate disease-causing variant, which requires further confirmation for the etiology of CDC42 pathogenesis. This represents the first case from the Saudi population. The current study adds to the spectrum of mutations in the CDC42 gene that might help in genetic counseling and contributes to the CDC42-related genetic and functional characterization. However, further studies into the molecular mechanisms that are involved are needed in order to determine the role of the CDC42 gene associated with aberrant cell migration and immune response.

scholarly journals Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

2009 ◽  
Vol 2 (1) ◽  
pp. 1 ◽  
Author(s):  
Sofia Kitsiou-Tzeli ◽  
Emmanouil Manolakos ◽  
Magdalini Lagou ◽  
Maria Kontodiou ◽  
Nadezda Kosyakova ◽  
...  
Keyword(s):  
De Novo ◽  
Ring Chromosome ◽  
Normal Male ◽  
Chromosome 20
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