scholarly journals Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature

2014 ◽  
Vol 2014 ◽  
pp. 1-6 ◽  
Author(s):  
Trent Burgess ◽  
Lilian Downie ◽  
Mark D. Pertile ◽  
David Francis ◽  
Melissa Glass ◽  
...  
Keyword(s):  
Chromosome Region ◽  
Ring Chromosome ◽  
Chromosome Analysis ◽  
Peripheral Blood Lymphocytes ◽  
Terminal Segment ◽  
Chromosome 21 ◽  
Molecular Testing ◽  
Fish Analysis ◽  
Nasal Bridge ◽  
Monosomy 21

We report a case of a neonate who was shown with routine chromosome analysis on peripheral blood lymphocytes to have full monosomy 21. Further investigation on fibroblast cells using conventional chromosome and FISH analysis revealed two additional mosaic cell lines; one is containing a ring chromosome 21 and the other a double ring chromosome 21. In addition, chromosome microarray analysis (CMA) on fibroblasts showed a mosaic duplication of chromosome region 21q11.2q22.13 with approximately 45% of cells showing three copies of the proximal long arm segment, consistent with the presence of a mosaic ring chromosome 21 with ring instability. The CMA also showed complete monosomy for an 8.8 Mb terminal segment (21q22.13q22.3). Whilst this patient had a provisional clinical diagnosis of trisomy 21, the patient also had phenotypic features consistent with monosomy 21, such as prominent epicanthic folds, broad nasal bridge, anteverted nares, simple ears, and bilateral overlapping fifth fingers, features which can also be present in individuals with Down syndrome. The patient died at 4.5 months of age. This case highlights the need for additional studies using multiple tissue types and molecular testing methodologies in patients provisionally diagnosed with monosomy 21, in particular if detected in the neonatal period.

Unexpected Coexistence of a Derivative t(21;21) and Complementary Mosaic r(21) in a Female with Multiple Miscarriages

2019 ◽  
Vol 158 (2) ◽  
pp. 83-87
Author(s):  
Duygu Onur Cura ◽  
Elcin Bora ◽  
Hande Ozkalayci ◽  
Ozgur Kirbiyik ◽  
Yasar B. Kutbay ◽  
...  
Keyword(s):  
Female Patient ◽  
Microarray Analysis ◽  
Trisomy 21 ◽  
Ring Chromosome ◽  
Partial Trisomy ◽  
Chromosome 21 ◽  
Fish Analysis ◽  
Recurrent Miscarriages ◽  
Conventional Cytogenetics ◽  
Diagnostic Importance

The case presented here describes a female patient with recurrent miscarriages and a normal microarray analysis result. However, the coexistence of a robertsonian (21;21) translocation and complementary mosaic ring chromosome 21 was detected by karyotyping and FISH analysis. Partial trisomy 21 was found with QF-PCR and microarray analysis in one of the fetuses. The aim of this report was to emphasize the diagnostic importance of conventional cytogenetics.

Ring chromosome 21 and monosomy 21 mosaicism in a patient with azoospermia

Andrologia ◽  
2014 ◽  
Vol 47 (1) ◽  
pp. 112-115
Author(s):  
Z. Cetin ◽  
O. Altiok-Clark ◽  
M. Sevuk ◽  
S. Berker Karauzum
Keyword(s):  
Ring Chromosome ◽  
Chromosome 21 ◽  
Monosomy 21

Cytogenetic, Molecular and FISH Analysis of an Isodicentric Chromosome 21 idic(21)(q22.3) in a Mildly-Affected Patient with Down Syndrome

2007 ◽  
Vol 7 (3) ◽  
pp. 215-218 ◽  
Author(s):  
Frenny J Sheth ◽  
Uppala Radhakrishna ◽  
Michael A Morris ◽  
Jean-Louis Blouin ◽  
Jayesh J Sheth ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Chromosome 21 ◽  
Fish Analysis ◽  
Affected Patient ◽  
Isodicentric Chromosome

scholarly journals Three-Color FISH Analysis of TMPRSS2/ERG Fusions in Prostate Cancer Indicates That Genomic Microdeletion of Chromosome 21 Is Associated with Rearrangement

Neoplasia ◽  
2006 ◽  
Vol 8 (6) ◽  
pp. 465-469 ◽  
Author(s):  
Maisa Yoshimoto ◽  
Anthony M. Joshua ◽  
Susan Chilton-MacNeill ◽  
Jane Bayani ◽  
Shamini Selvarajah ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Chromosome 21 ◽  
Fish Analysis

scholarly journals Concurrent Diagnosis of Chronic Myeloid Leukemia and Follicular Lymphoma: An Unreported Presentation

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Amy G. Starr ◽  
Sushma R. Jonna ◽  
Joeffrey J. Chahine ◽  
Bhaskar V. Kallakury ◽  
Chaitra S. Ujjani
Keyword(s):  
Chronic Myeloid Leukemia ◽  
Follicular Lymphoma ◽  
Myeloid Leukemia ◽  
Chronic Phase ◽  
Mediastinal Lymphadenopathy ◽  
Pcr Analysis ◽  
Molecular Testing ◽  
Fish Analysis ◽  
Rt Pcr ◽  
Non Hodgkin Lymphoma

Lymphadenopathy in chronic myeloid leukemia (CML) is usually due to extramedullary involvement with accelerated or blast phases of the disease. The occurrence of non-Hodgkin lymphoma (NHL) as a synchronous malignancy with CML is rare. We report a case of a 73-year-old male who presented with dyspnea and right-sided lower extremity edema in the setting of leukocytosis. Bone marrow evaluation indicated a chronic phase chronic myeloid leukemia (CML), confirmed by molecular testing. Imaging of the chest for persistent dyspnea revealed supraclavicular and mediastinal lymphadenopathy. Biopsy of the cervical node showed expanded lymphoid follicles with atypical germinal centers that were positive for CD10, BCL-2, and BCL-6, consistent with follicular lymphoma (FL). Nodal PCR demonstrated clonal IGH and IGK gene rearrangements, and FISH analysis was positive for IGH-BCL-2 fusion. Together, these tests supported the diagnosis of FL. Additionally, the lymph node showed paracortical expansion by maturing pan-hematopoietic elements, no blastic groups, and positive RT-PCR analysis for BCR-ABL1, indicating concomitant involvement by chronic phase-CML. To our knowledge, this is the first reported case of a patient with a concurrent diagnosis of CML and FL.

Agminated lentiginosis in a patient with ring chromosome 21

2012 ◽  
Vol 22 (6) ◽  
pp. 801-803
Author(s):  
Maddalena Siragusa ◽  
Maria Lentini ◽  
Carmelo Schepis
Keyword(s):  
Ring Chromosome ◽  
Chromosome 21

Combined Immunodeficiency with Ring Chromosome 21

2018 ◽  
Vol 38 (3) ◽  
pp. 251-256
Author(s):  
Melissa Norman ◽  
Brynn Wainstein ◽  
Antoinette Anazodo ◽  
Anne Turner ◽  
Cindy Ma ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 21 ◽  
Combined Immunodeficiency
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