Prenatal diagnosis of ring chromosome 13: a rare chromosomal aberration

2018 ◽  
Vol 7 (2) ◽  
Author(s):  
Haruka Goto ◽  
Yasuyuki Fujita ◽  
Yuka Sato ◽  
Saki Kido ◽  
Masanobu Ogawa ◽  
...  
Keyword(s):  
Chromosomal Aberration ◽  
Good Condition ◽  
Ring Chromosome ◽  
Japanese Woman ◽  
Trisomy 13 ◽  
Fish Analysis ◽  
Chromosome 13 ◽  
Ring Chromosomes ◽  
Banding Analysis ◽  
Female Baby

Abstract We report the case of a 24-year-old Japanese woman, gravida 2, para 1, who became pregnant spontaneously. At 24 weeks of gestation, her fetus was found to have various abnormalities, including holoprosencephaly, congenital heart disease and severe fetal growth restriction, and she was referred to our hospital. From these findings, the fetus was suspected of having a chromosomal aberration, in particular, trisomy 13, and after genetic counseling, amniocentesis for chromosomal analysis was performed. Although the results of fluorescent in situ hybridization (FISH) analysis showed no numeric abnormalities, G-banding analysis revealed a ring chromosome 13; 46, XX, r (13) (p13q32). At 41 weeks of gestation, she delivered a female baby weighing 2240 g with good condition. The respiratory status of the neonate was stable, and she was discharged 30 days after birth. Ring chromosomes are rare chromosomal aberrations, and obstetricians should recognize that ring chromosomes cannot be detected solely by FISH analysis and require G-banding analysis and that information on the ring breakpoint is needed to counsel the parents regarding the fetal and neonatal prognosis.

35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome

2015 ◽  
Vol 145 (1) ◽  
pp. 6-13
Author(s):  
Catherine Sarri ◽  
Sofia Douzgou ◽  
Haris Kontos ◽  
Katherine Anagnostopoulou ◽  
Zeynep Tümer ◽  
...  
Keyword(s):  
Array Cgh ◽  
Growth Failure ◽  
Ring Chromosome ◽  
Fish Analysis ◽  
Chromosome 2 ◽  
Common Pattern ◽  
Ring Chromosomes ◽  
Minor Anomalies ◽  
General Ring

Côté et al. [1981] suggested that ring chromosomes with or without deletions share a common pattern of phenotypic anomalies, regardless of which chromosome is involved. The phenotype of this ‘general ring syndrome' consists of growth failure without malformations, few or no minor anomalies, and mild to moderate mental retardation. We reconsidered the ring chromosome 2 case previously published by Côté et al. [1981], and we characterized it by array CGH, polymorphic markers as well as subtelomere MLPA and FISH analysis. A terminal deletion (q37.3qter) of maternal origin of the long arm of the ring chromosome 2 was detected and confirmed by all the above-mentioned methods. Ring chromosome 2 cases are exceedingly rare. Only 18 cases, including the present one, have been published so far, and our patient is the longest reported survivor, with a 35-year follow-up, and the third case characterized by array-CGH analysis.

Chromosome Banding Analysis Defines Subclasses of CLL with 13q14 Deletion and Identifies a New Mechanism of Submicroscopic 13q14 Deletions Occurring in the Breakpoint Region of Reciprocal Translocations.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 2064-2064
Author(s):  
Claudia Schoch ◽  
Frank Dicker ◽  
Susanne Schnittger ◽  
Wolfgang Kern ◽  
Torsten Haferlach
Keyword(s):  
Chromosome Banding ◽  
Fish Analysis ◽  
Prognostic Impact ◽  
Derivative Chromosome ◽  
Routine Diagnostics ◽  
Chromosome 13 ◽  
Interphase Fish ◽  
Banding Analysis ◽  
Chromosome Banding Analysis ◽  
13Q Deletion

Abstract 13q14 deletions are the most frequent abnormality in CLL and are overall associated with a favourable prognosis. However, the clinical course of the disease is heterogeneous within this subgroup of CLL. In order to characterize this subgroup, which is identified in routine diagnostics by interphase FISH, in more detail we performed chromosome banding analysis in addition. By improving the cultivation technique using the immunostimulatory CpG-oligonucleotide, DSP30, and IL-2 we reached a high success rate in routine diagnostics. Since August 2005 416 CLL were analyzed in parallel with chromosome banding analysis (CBA) and interphase-FISH. The FISH panel included probes for the detection of trisomy 12, IGH-rearrangements, and deletions of 6q21, 11q22.3 (ATM), 13q14 (D13S25 and D13S319), and 17p13 (TP53). 411/416 (98.8%) cases could be successfully stimulated for metaphase generation. 348/411 (84.7%) cases showed chromosomal aberrations in CBA while abnormalities were detected by FISH in 332 of 416 (79.8%) successfully evaluated cases. In 229 cases (55%) a 13q14 deletion was detected by FISH, including 58 patients with a homozygous deletion. CBA was not evaluable in 4/229 cases. A normal karyotype was observed in 9/229, due to a small size of the aberrant clone missed by CBA (20% of interphase nuclei) in 1 case and due to the small size of the deletion not visible in CBA in 8 cases (growth of the aberrant clone was confirmed by FISH on metaphases). In 108 cases a deletion 13q was the only abnormality detected in CBA. 29 cases showed one other abnormality in addition to del(13q) (del(11q) n=13, +12 n=2, der(17p) n=3, other abnormalities not detectable by the used FISH panel n=11). In 51 cases 2 or more abnormalities were observed in addition to the 13q deletion. Interestingly, 28 cases did not show a 13q-deletion but a reciprocal translocation or insertion with a breakpoint in 13q14. In all these cases FISH on metaphases was performed with a whole chromosome painting probe for chromosome 13 and a probe for either D13S25 or D13S319, demonstrating a loss of one D13S25/D13S319 signal from the derivative chromosome 13 and the partner. In 9 cases D13S25/D13S25 was also lost from the homologous chromosome 13 (homozygous 13q14 deletion). The translocation partner was confirmed in a second FISH analysis also confirming the reciprocal nature of the abnormality. The breakpoints of the partner chromosomes were distributed all over the genome (1p13, 1q23, 1q24, 1q42, 1q42, 3q21, 3q21, 4p16, 4q23, 5q13, 5q15, 6q11, 6q23, 7p21, 8p23, 8q21, 8q22, 9p22, 9q21, 9q33, 10p15, 10q24, 11p15, 11q23, 13q34, 15q15, 16q24, 16q24). In conclusion, CBA offers important information in addition to interphase FISH in CLL. 1) CBA detects chromosome abnormalities in addition to 13q14 deletion which can not be detected with a standard interphase FISH panel. 2) CBA provides new biological insights into different mechanisms leading to loss of 13q14. Prospective clinical trials have to evaluate the prognostic impact of the different subclasses of CLL with 13q14 deletion that now can be identified by chromosome banding analysis.

scholarly journals Ring chromosome 3 instability at mitosis

2019 ◽  
pp. 40-45
Author(s):  
Н.В. Шилова ◽  
М.Е. Миньженкова ◽  
Ж.Г. Маркова ◽  
А.А. Тарлычева ◽  
Д.А. Юрченко
Keyword(s):  
Ring Chromosome ◽  
Postnatal Growth ◽  
Chromosome 3 ◽  
Fish Analysis ◽  
Developmental Abnormalities ◽  
Dysmorphic Features ◽  
Severe Intellectual Disability ◽  
Ring Chromosomes ◽  
Mitotic Instability ◽  
Variable Phenotype

Актуальность. Кольцевая хромосома 3 - редкая хромосомная аномалия, характеризующаяся выраженной вариабельностью фенотипических отклонений. Наиболее характерными проявлениями присутствия в кариотипе кольцевой хромосомы 3 являются пре- и постнатальная задержка роста, задержка психомоторного развития, микроцефалия и другие аномалии развития. Кольцевая структура может приводить к нарушению нормального расхождения хромосом при клеточном делении и вызывает митотическую нестабильность, приводящую к динамическому мозаицизму. В данном сообщении представлен случай митотической нестабильности кольцевой хромосомы 3 у ребенка с множественными пороками и аномалиями развития, демонстрирующий влияние вторичного хромосомного дисбаланса на степень выраженности фенотипических аномалий. Цель: исследование митотической нестабильности кольцевой хромосомы 3. Методы: FISH с ДНК-зондами на хромосому 3. Результаты. При стандартном цитогенетическом исследовании определен кариотип 46,XX,r(3)(p26q29). При FISH-анализе обнаружено наличие нескольких клонов клеток, содержащих различные варианты аномальных по структуре производных кольцевой хромосомы 3. Выводы. Присутствие кольцевых хромосом в геноме является причиной митотической нестабильности, что приводит к формированию соматического динамического мозаицизма. Соматический динамический мозаицизм, вследствие которого образуются клоны клеток с различным хромосомным дисбалансом, вносит существенный вклад в формирование аномального фенотипа. Ring chromosome 3 is a rare chromosomal abnormality with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features. The presence of a ring chromosome causes mitotic instability and often results in dynamic mosaicism with cells showing chromosomal or segmental aneuploidies and leading to various phenotypic consequences. We present a case of mitotic instability of ring chromosome 3 in a child with multiple malformations and developmental abnormalities. Aim: The investigation of ring chromosome 3 instability at mitosis. Methods: FISH with DNA probe on chromosome 3. Results: The karyotype of a child - 46,XX,r(3)(p26q29). FISH analysis revealed a mosaic clones derived from ring chromosome 3. Conclusions: The ring chromosomes are unstable at mitosis and lead to the formation of somatic dynamic mosaicism. Mitotic instability of ring chromosome 3 demonstrates the influence of secondary genetic imbalance on severity of symptoms in our patient.

scholarly journals 46,XY,r(8)/45,XY,−8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1473
Author(s):  
Anna A. Kashevarova ◽  
Tatyana V. Nikitina ◽  
Larisa I. Mikhailik ◽  
Elena O. Belyaeva ◽  
Stanislav A. Vasilyev ◽  
...  
Keyword(s):  
De Novo ◽  
Snp Array ◽  
Ring Chromosome ◽  
Chromosome 8 ◽  
Fish Analysis ◽  
Feeding Problems ◽  
Maternal Chromosome ◽  
Imprinting Disorder ◽  
Ring Chromosomes ◽  
Normal Copy Number

Ring chromosome 8 (r(8)) is one of the least frequent ring chromosomes. Usually, maternal chromosome 8 forms a ring, which can be lost from cells due to mitotic instability. The 8q24 region contains the imprinted KCNK9 gene, which is expressed from the maternal allele. Heterozygous KCNK9 mutations are associated with the imprinting disorder Birk-Barel syndrome. Here, we report a 2.5-year-old boy with developmental delay, microcephaly, dysmorphic features, diffuse muscle hypotonia, feeding problems, motor alalia and noncoarse neurogenic type of disturbance of muscle electrogenesis, partially overlapping with Birk-Barel syndrome phenotype. Cytogenetic analysis of lymphocytes revealed his karyotype to be 46,XY,r(8)(p23q24.3)[27]/45,XY,−8[3]. A de novo 7.9 Mb terminal 8p23.3p23.1 deletion, a 27.1 Mb 8p23.1p11.22 duplication, and a 4.4 Mb intact segment with a normal copy number located between them, as well as a 154-kb maternal LINGO2 gene deletion (9p21.2) with unknown clinical significance were identified by aCGH + SNP array. These aberrations were confirmed by real-time PCR. According to FISH analysis, the 8p23.1-p11.22 duplication was inverted. The ring chromosome originated from maternal chromosome 8. Targeted massive parallel sequencing did not reveal the KCNK9 mutations associated with Birk-Barel syndrome. Our data allow to assume that autosomal monosomy with inactive allele of imprinted gene arising from the loss of a ring chromosome in some somatic cells may be an etiological mechanism of mosaic imprinting disorders, presumably with less severe phenotype.

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 Human Ring Chromosomes – New Insights for their Clinical Significance

2013 ◽  
Vol 16 (1) ◽  
pp. 13-19 ◽  
Author(s):  
R.S. Guilherme ◽  
E Klein ◽  
A.B. Hamid ◽  
S Bhatt ◽  
M Volleth ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Clinical Signs ◽  
Ring Chromosome ◽  
Signs And Symptoms ◽  
Molecular Techniques ◽  
Ring Chromosomes ◽  
Multicolor Banding ◽  
Clinical Signs And Symptoms ◽  
Clinical Problems

Abstract Twenty-nine as yet unreported ring chromosomes were characterized in detail by cytogenetic and molecular techniques. For FISH (fluorescence in situ hybridization) previously published high resolution approaches such as multicolor banding (MCB), subcentromere-specific multi-color-FISH (cenM-FISH) and two to three-color-FISH applying locus-specific probes were used. Overall, ring chromosome derived from chromosomes 4 (one case), 10 (one case), 13 (five cases), 14, (three cases), 18 (two cases), 21 (eight cases), 22 (three cases), X (five cases) and Y (one case) were studied. Eight cases were detected prenatally, eight due developmental delay and dysmorphic signs, and nine in connection with infertility and/or Turner syndrome. In general, this report together with data from the literature, supports the idea that ring chromosome patients fall into two groups: group one with (severe) clinical signs and symptoms due to the ring chromosome and group two with no obvious clinical problems apart from infertility.

scholarly journals High incidence of chromosome 13 deletion in multiple myeloma detected by multiprobe interphase FISH

Blood ◽  
2000 ◽  
Vol 96 (4) ◽  
pp. 1505-1511 ◽  
Author(s):  
John Shaughnessy ◽  
Erming Tian ◽  
Jeffrey Sawyer ◽  
Klaus Bumm ◽  
Reid Landes ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Poor Prognosis ◽  
Plasma Cells ◽  
Suppressor Gene ◽  
Homozygous Deletion ◽  
Cell Labeling ◽  
Fish Analysis ◽  
Chromosome 13 ◽  
High Incidence ◽  
Homozygous Deletions

Abstract Multiple myeloma (MM) is a hypoproliferative malignancy yielding informative karyotypes in no more than 30% of newly diagnosed cases. Although cytogenetic and molecular deletion of chromosome 13 is associated with poor prognosis, a MM tumor suppressor gene (TSG) has not been identified. To localize a minimal deleted region of chromosome 13, clonotypic plasma cells from 50 consecutive patients with MM were subjected to interphase fluorescence in situ hybridization (FISH) analysis using a panel of 11 probes spanning the entire long arm of chromosome 13. Whereas chromosome 13 abnormalities were absent in plasma cells from 25 normal donors, 86% of patients with MM demonstrated such aberrations. Heterogeneity, both in deletion frequency and extent, was confirmed by simultaneous FISH with 2 chromosome 13 probes. Deletion hot spots were noted at D13S272 (70%) and D13S31 (64%), 2 unlinked loci at 13q14. Homozygous deletions at these loci occurred in 12% (simultaneously in 8%) of the cases. Molecular deletions were found in all 14 patients with morphologic deletions, in 21 of 24 with uninformative karyotypes, and 8 of 12 patients with karyotype abnormalities lacking chromosome 13 deletion. Homozygous deletion of any marker was noted in 4% with low and in 36% with higher plasma cell labeling index greater than 0.4% (P = .01). The absence of increasing deletion incidence and extent with therapy duration suggests that the observed lesions are not induced by treatment. The high incidence and extent of chromosome 13 deletions require the correlation of specific deletion(s) with poor prognosis. These analyses will provide valuable guidance toward cloning of an MM-TSG.

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.

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