scholarly journals A Turner syndrome case associated with dic(Y;22)

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Rie Kawamura ◽  
Hidehito Inagaki ◽  
Midori Yamada ◽  
Fumihiko Suzuki ◽  
Yuki Naru ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Loss Of Heterozygosity ◽  
Sex Chromosomes ◽  
Chromosome 22 ◽  
Fish Analysis ◽  
Mosaic Pattern ◽  
Case Presentation ◽  
Snp Microarray ◽  
Female Case ◽  
Pseudoautosomal Regions

Abstract Background Constitutional telomeric associations are very rare events and the mechanism underlying their development is not well understood. Case presentation We here describe a female case of Turner syndrome with a 45,X,add(22)(p11.2)[25]/45,X[5]. We reconfirmed this karyotype by FISH analysis as 45,X,dic(Y;22)(p11.3;p11.2)[28]/45,X[2].ish dic(Y;22)(SRY+,DYZ1+). A possible mechanism underlying this mosaicism was a loss of dic(Y;22) followed by a monosomy rescue of chromosome 22. However, SNP microarray analysis revealed no loss of heterozygosity (LOH) in chromosome 22, although a mosaic pattern of LOH was clearly detectable at the pseudoautosomal regions of the sex chromosomes. Conclusions Our results suggest that the separation of the dicentric chromosome at the junction resulted in a loss of chromosome Y without a loss of chromosome 22, leading to this patient’s unique mosaicism. Although telomere signals were not detected by FISH at the junction, it is likely that the original dic(Y;22) chromosome was generated by unstable telomeric associations. We propose a novel “pulled apart” mechanism as the process underlying this mosaicism.

Low back pain in a 37-year-old female: Case presentation

2012 ◽  
Vol 15 (2) ◽  
pp. 41-42
Author(s):  
Michelle A. Wessely ◽  
Kevin Mernissi
Keyword(s):  
Low Back Pain ◽  
Back Pain ◽  
Low Back ◽  
Case Presentation ◽  
Female Case

scholarly journals Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Domenico Dell’Edera ◽  
Arianna Allegretti ◽  
Mario Ventura ◽  
Ludovica Mercuri ◽  
Angela Mitidieri ◽  
...  
Keyword(s):  
Learning Difficulties ◽  
Clinical Signs ◽  
Mendelian Inheritance ◽  
Comparative Genomic ◽  
Chromosome 22 ◽  
Case Presentation ◽  
Mrkh Syndrome ◽  
Altered Gene Expression ◽  
Congenital Condition ◽  
Altered Gene

Abstract Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1) or associated with other renal, vertebral or cardiac defects (MRKH 2). Case presentation In this paper, we report a case of a Caucasian patient showing the clinical signs associated with MRKH. Array-based comparative genomic hybridization (a-CGH) analysis revealed a microduplication of approximately 3.01 megabases (Mb) located on the long arm of chromosome 22 (22q11.21). Microduplications affecting the 22q11.21 region have been shown to be associated with MRKH syndrome and Müllerian aplasia. The phenotype of patients with 22q11.2 duplication (OMIM #608363) appears extremely variable, ranging from apparently normal to mild learning difficulties or with multiple defects, sharing features with DiGeorge/velocardiofacial (DGS/VCFS) syndrome. Conclusions The altered gene expression together with other genetic, nongenetic, epigenetic or environmental factors can cause the extremely variable phenotype in patients carrying such duplication. Therefore, we can consider MRKH syndrome to be one of the clinical features of DGS/VCFS syndrome.

scholarly journals Mosaic Turner Syndrome Presenting with a 46,XY Karyotype

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Melody Rasouli ◽  
Katherine McDaniel ◽  
Michael Awadalla ◽  
Karine Chung
Keyword(s):  
Turner Syndrome ◽  
Fish Analysis ◽  
Male To Female

Although Turner syndrome is most commonly associated with a 45,X genotype, other mosaic genotypes are present in approximately half of all cases. We describe a case of Turner syndrome with a 46,XY genotype by conventional 5-cell karyotype who was subsequently found to have a mosaic genotype of 18% 45,X and 82% 46,XY by 50-cell FISH analysis. Individuals with a mosaic 45,X/46,XY genotype have a variety of phenotypic presentations ranging from male to female which are not correlated with the percentage of mosaicism. Our case represents an extreme example where the genotype is predominately 46,XY and the phenotype typical of Turner syndrome.

scholarly journals Evolutionary Dynamics of Sex Chromosomes of Paleognathous Birds

2019 ◽  
Vol 11 (8) ◽  
pp. 2376-2390 ◽  
Author(s):  
Luohao Xu ◽  
Simon Yung Wa Sin ◽  
Phil Grayson ◽  
Scott V Edwards ◽  
Timothy B Sackton
Keyword(s):  
Sex Chromosomes ◽  
Evolutionary Dynamics ◽  
Chromosome Evolution ◽  
Sex Chromosome ◽  
Z Chromosome ◽  
Recombination Suppression ◽  
Evolutionary Forces ◽  
Genomic Level ◽  
Standard Models ◽  
Pseudoautosomal Regions

Abstract Standard models of sex chromosome evolution propose that recombination suppression leads to the degeneration of the heterogametic chromosome, as is seen for the Y chromosome in mammals and the W chromosome in most birds. Unlike other birds, paleognaths (ratites and tinamous) possess large nondegenerate regions on their sex chromosomes (PARs or pseudoautosomal regions). It remains unclear why these large PARs are retained over >100 Myr, and how this retention impacts the evolution of sex chromosomes within this system. To address this puzzle, we analyzed Z chromosome evolution and gene expression across 12 paleognaths, several of whose genomes have recently been sequenced. We confirm at the genomic level that most paleognaths retain large PARs. As in other birds, we find that all paleognaths have incomplete dosage compensation on the regions of the Z chromosome homologous to degenerated portions of the W (differentiated regions), but we find no evidence for enrichments of male-biased genes in PARs. We find limited evidence for increased evolutionary rates (faster-Z) either across the chromosome or in differentiated regions for most paleognaths with large PARs, but do recover signals of faster-Z evolution in tinamou species with mostly degenerated W chromosomes, similar to the pattern seen in neognaths. Unexpectedly, in some species, PAR-linked genes evolve faster on average than genes on autosomes, suggested by diverse genomic features to be due to reduced efficacy of selection in paleognath PARs. Our analysis shows that paleognath Z chromosomes are atypical at the genomic level, but the evolutionary forces maintaining largely homomorphic sex chromosomes in these species remain elusive.

A Distinct Pattern of Additional Aberrations and Novel Mechanisms of MLLRearrangements Are Detectable in AML with 11q23 Aberrations Using SNP Arrays

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 4143-4143
Author(s):  
Claudia Haferlach ◽  
Alexander Kohlmann ◽  
Sonja Rauhut ◽  
Frank Dicker ◽  
Wolfgang Kern ◽  
...  
Keyword(s):  
Microarray Data ◽  
Copy Number ◽  
Chromosome Banding ◽  
Physical Map ◽  
Distinct Pattern ◽  
Fish Analysis ◽  
Snp Microarray ◽  
Mll Gene ◽  
Banding Analysis ◽  
Chromosome Banding Analysis

Abstract Chromosomal rearrangements involving the MLL gene occur in 3–5% of adult AML. More than 50 different partner genes have been described in acute leukemia with 11q23-abnormalities. Although MLL-rearrangements per se have a high leukemic potential, additional genetic aberrations occur. This study was intended to decipher MLLrearrangements and their accompanying genetic lesions at the molecular level. Therefore, Affymetrix SNP 6.0 microarray analyses were performed in 47 newly diagnosed AML with 11q23 aberrations. First, as a proof of principle, all gains and losses of chromosomal material as observed by cytogenetics were also detected by the SNP technology. This included recurring gains of whole chromosomes; 4 (n=3), 8 (n=7), and 19 (n=2). In addition, the following unbalanced abnormalities were detected: gain of 1q31.3 to 1q43 (n=5) and a gain of 3q (n=2). In 40/47 cases the following partner genes had been identified based on the translocation observed in chromosome banding analysis and RTPCR: AF9 (n=27), AF6 (n=4), AF10 (n=3), ELL (n=2), AF4 (n=1), AF17 (n=1), ENL (n=1), SEPT5 (n=1). In 4/47 cases results from chromosome banding analysis suggested partner genes to be located at 11q13 (n=1), 10p11 (n=1), and 19p13 (n=2). In 3/47 cases the MLL rearrangement was cryptic and only suspected by FISH analysis. Two of those (#1, #2) showed a del(11)(q23q25) in chromosome banding analyses and FISH analyses demonstrated a loss of the 3′ flanking MLL probe. In the remaining case (#3) cytogenetics showed an i(21)(q10). FISH analysis on metaphase spreads identified an additional copy of the 5′ flanking MLL probe which localized on 6q27. SNP analyses were able to resolve all three cases: #1) The deletion was fine-mapped by SNP microarray data and ranged from physical map position 117,859,541 to 11qter including exons 10 to 28 of the MLL gene. In addition, SNP microarray data revealed a gained segment on 6q ranging from physical map position 167,977,103 to 6qter including exons 2 to 28 of AF6. #2) In this case the 11q deletion spans from physical map position 117,859,541 to 121,033,713 including exons 10 to 28 of the MLL gene. SNP microarray data revealed a gained segment on 6q ranging from physical map position 168,036,784 to 168,457,799 including exons 9 to 28 of AF6. #3) Corresponding to FISH analysis SNP microarray data revealed a gained segment on 11q ranging from physical map position 117,760,488 to 117,859,673, including exons 1 to 9 of MLL. Moreover, on chromosome 6 a small deletion of 177 kb was detected, starting at physical map position 167,804,673 towards 167,982,457. This deletion included exon 1 of AF6 and a small adjacent centromeric region. In all 3 cases, subsequent RT-PCR analyses confirmed the predicted MLL-AF6 fusion. Analyzing the MLL gene further in the remaining cases revealed copy number changes in 2 cases showing gains of 11q starting from exon 12 of the MLL gene to 11qter (physical map position 117,863,291 to 11qter and 117,862,916 to 11qter). These were due to an extra copy of der(4)t(4;11)(q21;q23) and der(19)t(11;19)(q23;p13.3), respectively. In two additional cases very small deletions within MLL with a size of 4.831 kb including exons 10 and 11 (physical map position 117,859,541 to 117,864,372) and 1.699 kb including exons 10 and 11 (physical map position 117,859,541 to 117,861,240) were observed (MLL-AF6- and MLL-AF4-rearrangement). With respect to the various MLL partner genes, deletions starting in the partner genes were observed in 2 cases with MLL-AF9 rearrangement (size: 8 MB and 6.1 MB, physical map position 20,334,335 to 28,350,412 and 20,342,604 to 26,451,390). The region deleted in both cases spanned 37 genes, including several genes of the interferon alpha family and the tumor suppressor candidate TUSC1. Copy number gains were observed in the region of the partner genes in both cases with a doubling of der(4)t(4;11)(q21;q23) and der(19)t(11;19)(q23;p13.3). In conclusion, using high resolution SNP arrays we identified three novel mechanisms leading to MLL-AF6 fusions which are cytogenetically cryptic and associated with atypical FISH signal constellations. Furthermore, a distinct pattern of additional aberrations was observed showing trisomies of chromosomes 4, 8 and 19. SNP microarray data also revealed a small deletion on the short arm of chromosome 9 as a recurrent additional genetic change in AML with MLL-AF9-rearrangements.

Variant Philadelphia Translocation with BCR/ABL Fusion Gene Site In 10q24 In a Case of Chronic Myeloid Leukemia

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 4839-4839
Author(s):  
Rossana Bonomi ◽  
Pablo Lopez ◽  
Daniela Infante ◽  
Isabel Moro ◽  
Victoria Elizondo ◽  
...  
Keyword(s):  
Chronic Myeloid Leukemia ◽  
Peripheral Blood ◽  
Myeloid Leukemia ◽  
Fusion Gene ◽  
Chromosome 9 ◽  
Chromosome 22 ◽  
Fish Analysis ◽  
Signal Pattern ◽  
Ph Chromosome ◽  
Fusion Signal

Abstract Abstract 4839 Introduction. Chronic myeloid leukemia (CML) is characterized by the Philadelphia chromosome (Ph) observed in more than 90% of patients with CML as a result of t(9;22)(q34;q11), leading to the formation of chimeric gene BCR/ABL encoding for proteins with abnormal tyrosine kinase activity. Cytogenetic variants of Ph chromosome can be identifed in 5 to 10% of CML patients, involving additional chromosomes other than 9 and 22. To explain the formation of variant translocations one-step, two-step and multi-step mechanisms have been proposed. Rarely, the variant Ph chromosome results from a BCR insertion on the ABL region and form a BCR/ABL fusion gene, generally mapping to 9q34, instead of the usual location at 22q11. In very few variant Ph cases, the insertion of the BCR/ABL product in a third chromosome was demonstrated. Case Report 28 year-old man, with bilateral central scotoma and gingivorragia. Physical examination: Grade 4 splenomegaly. Peripheral blood count showed hemoglobin concentration 11.5 g/dl, platelet count: 300.000/mm3, and white blood cell count 590.000/mm3. Blood smear: myelemia exhibiting 30% of myeloid blasts. Bone marrow biopsy: panmyelosis showing 20% of myeloid blasts. Cytogenetic analysis by G-banding performed in peripheral blood verified the following karyotype: 46, XY, t(9;22;10)(q34;q11;q24)[20] The analysis of the BCR-ABL fusion gene according to standard protocols detected the presence of the b3a2 isoform. Fluorescence in situ hybridization (FISH) studies using dual color dual fusion probes in metaphases showed a signal pattern 1F2G1R. The fusion signal mapped to 10q24, the red signal to 9q34, and the normal green signal to chromosome 22, while a second low intensity green signal mapped to the Ph chromosome. No signal was observed in der(9). Interphase FISH analysis in nuclei (n=200) presented the same signal pattern. Instead of using whole chromosome probes for 9 and 22, we hybridised probes used to detect DiGiorge syndrome. These probes detect gene control ARSA (spectrum green) localized at 22q13 and Tuple1 at 22q11 (spectrum orange). Two signals, green and orange were identified in normal chromosome 22. Ph chromosome showed the orange signal, whereas the green signal mapped to der(10). Discussion. The localization of the hybrid BCR/ABL gene on chromosomes other than 22q is a rare event wich can only be detected by FISH techniques. When these unusual translocation occurs, the hypothesis most often put forward is that several consecutive chromosome rearrangements have taken place. In the present case the interpretation of karyotypes, FISH data and molecular evidence lead to the following hypothesis: Insertion of the BCR sequence from chromosome 22 to chromosome 9 may have ocurred, producing a BCR/ABL fusion in der(9). The Ph chromosome detected by G-banding showed a different green fluorescence intensity in the metaphase FISH signal pattern with BCR/ABL dual color dual fusion probes, as a result of an insertion on chromosome 9. This first event was followed by the translocation between the derivative 9 and chromosome 10, being the final localization of the BCR/ABL gene in 10q24. FISH analysis using a DiGeorge syndrome probe, supports the hypothesis of a multistep mechanism underlying insertion and translocations events in the present case. The relocation of BCR/ABL fusion sequence on sites other than chromosme 22q11 represent a rare type of variant Ph translocation. At least 21 cases described in the literature, showed fusion gene BCR/ABL located at 9q24. Only 12 patients with variant Ph were reported bearing BCR/ABL on a third chromosome. All of them involved a masked Ph chromosome. To our best knowledge this is the first report showing a variant Ph chromosome detected by G-banding in a CML patient due to a BCR insertion on ABL sequences and exhibiting the fusion signal in a third chromosome. Disclosures: No relevant conflicts of interest to declare.

FISH Analysis of Chromosome 22 from Peripheral Nerve Biopsies of Intraneural Perineurioma (P05.146)

Neurology ◽  
2012 ◽  
Vol 78 (Meeting Abstracts 1) ◽  
pp. P05.146-P05.146
Author(s):  
M. Mauermann ◽  
C. Klein ◽  
P. Dyck ◽  
J. Engelstad ◽  
H. Flynn Gilmer ◽  
...  
Keyword(s):  
Peripheral Nerve ◽  
Chromosome 22 ◽  
Fish Analysis ◽  
Intraneural Perineurioma

Loss of heterozygosity on chromosome 22 in human ependymomas

2002 ◽  
Vol 103 (4) ◽  
pp. 415-420 ◽  
Author(s):  
Bei Huang ◽  
Petr Starostik ◽  
Joachim Kühl ◽  
Jörg Tonn ◽  
Wolfgang Roggendorf
Keyword(s):  
Loss Of Heterozygosity ◽  
Chromosome 22

scholarly journals Pure Testicular Seminoma Relapsing Late with Somatic Type Malignancy

2017 ◽  
Vol 2017 ◽  
pp. 1-5 ◽  
Author(s):  
Klaus-Peter Dieckmann ◽  
Petra Anheuser ◽  
Ralf Gehrckens ◽  
Waldemar Wilczak ◽  
Guido Sauter ◽  
...  
Keyword(s):  
Cancer Cells ◽  
Clinical Stage ◽  
Late Relapse ◽  
Fish Analysis ◽  
Testicular Seminoma ◽  
Case Presentation ◽  
Direct Transformation ◽  
Nerve Sheath ◽  
Isochromosome 12P ◽  
Yolk Sac Tumour

Background. Somatic type malignancy (STM) occurs in 2% of all germ cell tumours (GCTs). The prognosis is unfavourable and the origin is poorly understood. Pathogenetic hypotheses involve direct transformation of teratoma, origin from totipotent cancer cells, or derivation from yolk sac tumour elements. Case Presentation. A 31-year-old patient was cured from testicular seminoma clinical stage IIc by orchiectomy and cisplatin-based chemotherapy. Nine years later, he experienced a late relapse with a mass sized 5×6 cm located at the former metastatic site. As no remission occurred after chemotherapy with three cycles of cisplatin, ifosfamide and etoposide, the mass was surgically resected. Histologically, the specimen consisted of neurofibroma with areas of malignant peripheral nerve sheath tumour and spots with mature bone formation. FISH analysis disclosed isochromosome 12p in the majority of evaluated cells suggesting somatic type malignancy (STM) of GCT. The patient is well 1 year after surgery. Conclusion. The pathogenesis of this STM remains enigmatic. The origin from GCT was evidenced by documentation of isochromosome 12p. Unrecognized teratomatous elements in the primary and totipotent cancer cells surviving the first chemotherapy could be hypothesized to represent the origin. STM developing from seminoma cells would be another novel hypothesis.

The conservation of number and location of 18S sites indicates the relative stability of rDNA in species of Pentatomomorpha (Heteroptera)

Genome ◽  
2013 ◽  
Vol 56 (7) ◽  
pp. 425-429 ◽  
Author(s):  
Vanessa Bellini Bardella ◽  
Thiago Fernandes ◽  
André Luís Laforga Vanzela
Keyword(s):  
Sex Chromosomes ◽  
18S Rdna ◽  
Fluorescent In Situ Hybridization ◽  
Evolutionary History ◽  
Conclusive Evidence ◽  
Fish Analysis ◽  
Comparative Cytogenetics ◽  
Rdna Sites ◽  
History Of

Fluorescent in situ hybridization (FISH) with rDNA probes has been used for comparative cytogenetics studies in different groups of organisms. Although heteropterans are a large suborder within Hemiptera, studies using rDNA are limited to the infraorder Cimicomorpha, in which rDNA sites are present in the autosomes or sex chromosomes. We isolated and sequenced a conserved 18S rDNA region of Antiteuchus tripterus (Pentatomidae) and used it as a probe against chromosomes of 25 species belonging to five different families of Pentatomomorpha. The clone pAt05, with a length of 736 bp, exhibited a conserved stretch of 590 bp. FISH analysis with the probe pAt05 always demonstrated hybridization signals in sub-terminal positions, except for Euschistus heros. Apparently, there is a tendency for 18S rDNA sites to locate in autosomes, except for Leptoglossus gonagra and Euryophthalmus rufipennis, which showed signals in the m- and sex chromosomes, respectively. Although FISH has produced evidence that rearrangements are involved in rDNA repositioning, whether in different autosomes or between sex and m-chromosomes, we have no conclusive evidence of what were the pathways of these rearrangements based on the evolutionary history of the species studied here. Nevertheless, the diversity in the number of species analyzed here showed a tendency of 18S rDNA to remain among the autosomes.

Sign in / Sign up

Export Citation Format

Share Document