The ring chromosome 13 syndrome

1982 ◽  
Vol 61 (1) ◽  
pp. 18-23 ◽  
Author(s):  
Nicole J. Martin ◽  
Phillip J. Harvey ◽  
John H. Pearn
Keyword(s):  
Ring Chromosome ◽  
Chromosome 13

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

scholarly journals Molecular and Cytogenetic Characterization of a Fetus with Mosaic Ring Chromosome 13

2017 ◽  
Vol 130 (24) ◽  
pp. 3007-3008 ◽  
Author(s):  
Xin-Rong Zhao ◽  
Xu Han ◽  
Yan-Lin Wang ◽  
Wen-Jing Hu
Keyword(s):  
Ring Chromosome ◽  
Chromosome 13 ◽  
Cytogenetic Characterization

scholarly journals Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-10
Author(s):  
Cristian Petter ◽  
Lilia Maria Azevedo Moreira ◽  
Mariluce Riegel
Keyword(s):  
Gene Loss ◽  
Growth Failure ◽  
Ring Chromosome ◽  
Ring Structure ◽  
Deletion Syndrome ◽  
Specific Gene ◽  
Chromosome 13 ◽  
Cell Clones ◽  
Mitotic Instability ◽  
Karyotype Analyses

Individuals with ring chromosome 13 may show characteristics observed in a deletion syndrome and could present a set of dismorphies along with intellectual disability, according to chromosomal segments involved in the genetic imbalance. Nevertheless, ring anomalies likewise is called “dynamic mosaicism”, phenomena triggered by the inner instability concerning the ring structure, thus leading to the establishment of different cell clones with secondary aberrations. Phenotypic features, such as growth failure and other anomalies in patients with this condition have been associated with an inherent ring chromosome mitotic instability, while recent studies offer evidence on a role played by the differential loss of genes implicated in development. Here, we observed similar mosaicism rates and specific gene loss profile among three individuals with ring chromosome 13 using GTW-banding karyotype analyses along with FISH and CGH-array approaches. Karyotypes results were: patient 1—r(13)(p13q32.3), patient 2—r(13)(p11q33.3), and patient 3—r(13)(p12q31.1). Array-CGH has revealed qualitative genetic differences among patients in this study and it was elusive in precise chromosomal loss statement, ranging from 13 Mb, 6.8 Mb, and 30 Mb in size. MIR17HG and ZIC2 loss was observed in a patient with digital anomalies, severe growth failure, microcephaly and corpus callosum agenesis while hemizygotic EFNB2 gene loss was identified in two patients, one of them with microphtalmia. According to these findings, it can be concluded that specific hemizygotic loss of genes related to development, more than dynamic mosaicism, may be causative of congenital anomalies shown in patients with ring 13 chromosome.

Case Report of Ring Chromosome 13: 46,XX,r(13)(p13q34)/46,XX,dic r(13;13)(p13q34;p13q34)

2015 ◽  
Vol 5 (1) ◽  
pp. 123-128
Author(s):  
Maurício Rodrigues ◽  
Renata Moreira ◽  
Patrícia Ribeiro
Keyword(s):  
Case Report ◽  
Ring Chromosome ◽  
Chromosome 13

Monosomy and ring chromosome 13 in a thyroid nodular goiter—do we underestimate its relevance in benign thyroid lesions?

2012 ◽  
Vol 205 (3) ◽  
pp. 128-130 ◽  
Author(s):  
Wolfgang Sendt ◽  
Volkhard Rippe ◽  
Inga Flor ◽  
Norbert Drieschner ◽  
Jörn Bullerdiek
Keyword(s):  
Nodular Goiter ◽  
Ring Chromosome ◽  
Chromosome 13 ◽  
Benign Thyroid ◽  
Thyroid Lesions

Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 13

Gene ◽  
2013 ◽  
Vol 529 (1) ◽  
pp. 163-168 ◽  
Author(s):  
Chih-Ping Chen ◽  
Chin-Han Tsai ◽  
Schu-Rern Chern ◽  
Peih-Shan Wu ◽  
Jun-Wei Su ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Ring Chromosome ◽  
Chromosome 13 ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

Ring chromosome 13 in an infant with multiple congenital anomalies and penoscrotal transposition

1998 ◽  
Vol 7 (4) ◽  
pp. 299-301 ◽  
Author(s):  
Koray Boduroglu ◽  
Mehmet Alika??ifoglu ◽  
Erg??l Tun??bilek ◽  
??ebnem Uludogan
Keyword(s):  
Congenital Anomalies ◽  
Ring Chromosome ◽  
Multiple Congenital Anomalies ◽  
Chromosome 13 ◽  
Penoscrotal Transposition

A Case with a Ring Chromosome 13 in a Cohort of 203 Children with Non-Syndromic Autism and Review of the Cytogenetic Literature

2014 ◽  
Vol 144 (1) ◽  
pp. 1-8 ◽  
Author(s):  
Chariyawan Charalsawadi ◽  
Worathai Maisrikhaw ◽  
Verayuth Praphanphoj ◽  
Juthamas Wirojanan ◽  
Tippawan Hansakunachai ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 13 ◽  
Syndromic Autism

scholarly journals SUN-679 Early Onset Diabetes Mellitus in a Young Woman with Ring Chromosome 13 Syndrome

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Lauren Anne Buehler ◽  
Alexandra Mikhael ◽  
Robert S Zimmerman
Keyword(s):  
Diabetes Mellitus ◽  
Young Woman ◽  
Early Onset ◽  
Hemoglobin A1c ◽  
Case Reports ◽  
Ring Chromosome ◽  
Facial Dysmorphism ◽  
Gene Deletions ◽  
Chromosome 13 ◽  
History Of

Abstract Background: Ring chromosome 13 is a rare genetic disorder in which the two ends of chromosome 13 are fused together to form a ring shape. Ring formation subsequently leads to gene deletions on both the long and short arms of the chromosome. Observed phenotypes among these patients are variable due to differences in the number of genetic deletions that occur with fusion. Common clinical features seen in ring chromosome 13 include micro- or anencephaly, severe mental retardation (MR), ambiguous genitalia, growth retardation, and facial dysmorphism. To our knowledge, diabetes mellitus (DM) has only been reported in two published case reports of patients with ring chromosome 13. It has been proposed that development of DM in this syndrome may be due to deletion of the IRS2 gene on the long arm of chromosome 13. This hypothesis is based on evidence from knockout mice studies and genetic comparisons of ring chromosome 13 patients with and without DM. Clinical Case: We present a case of a 23-year-old woman with a known history of mosaic ring chromosome 13 abnormality who was diagnosed with DM at age 21. Diagnosis was made incidentally based on laboratory data obtained at a routine outpatient visit. Hemoglobin A1c at that time was 13.1%. Glutamic acid decarboxylase and insulin antibodies were negative. She has been on a basal-bolus insulin regimen since diagnosis with overall good glycemic control (average hemoglobin A1c 6.5%). She has no known micro- or macrovascular complications of DM. She has no family history of chromosome 13 syndrome or DM. Other notable clinical features associated with her ring chromosome 13 disorder include MR, spastic encephalopathy, delayed puberty (menarche at age 18), scoliosis, facial dysmorphism, and deficiencies in clotting factors 7 and 10. Conclusion: DM is a common disorder that is typically multifactorial in etiology. In rare cases, DM can be the result of monogenic mutations or deletions. We present a case of a young woman with early-onset antibody-negative DM thought to be related to gene deletions resulting from her underlying ring chromosome 13 abnormality. There is some evidence from prior case reports and rodent studies to suggest that DM in patients with this disorder may be the result of IRS2 deletion from the long arm of chromosome 13. Although DM is a rare complication of ring chromosome 13 disorder, early screening should be considered in these patients to prevent development of downstream complications. References: 1. Babaya N, Noso S, Hiromine Y, Ito H, Taketomo Y, Yamamoto T, Kawabata Y, Ikegami H. Early-Onset Diabetes Mellitus in a Patient With a Chromosome 13q34qter Microdeletion Including IRS2. J Endocr Soc. 2018 Sep 11;2(10):1207-1213. 2. Lagergren M, Börjeson M, Mitelman F. Prophase analysis of ring chromosome 13--an attempt at phenotype-karyotype correlation. Hereditas. 1980;93(2):231-3.

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