Molecular and cytogenetic evaluation of a patient with ring chromosome 13 and discordant results.

Abstract:

:We describe the case of a male newborn with ring chromosome 13 found to have dysmorphic features, growth retardation, imperforate anus, and ambiguous genitalia. An initial karyotype showed 46,XY,r(13)(p13q34) in the 30 cells analyzed. SNP microarray from peripheral blood revealed not only an 8.14-Mb 13q33.2q34 deletion, but also a duplication of 87.49 Mb suggesting partial trisomy 13q that the patient did not appear to have clinically. Further cytogenetic characterization detected 3 distinct cell lines in the repeated peripheral blood sample: 46,XY,r(13)(p13q34)[89]/ 46,XY,r(13;13)(p13q34)[7]/45,XY,-13[5] and 2 in cultured fibroblasts: 46,XY,r(13)(p13q34)[65]/45,XY,-13[35]. Repeated molecular studies on peripheral blood and fibroblasts, however, failed to document the initially seen partial trisomy 13q. We postulate that the presence of duplicated material may be evidence of the high burden of duplicate rings in peripheral blood at any given time, with the high rates of cell death caused by mitotically unstable double rings accounting for the repeated microarray results that failed to detect any duplications. We emphasize the correlation between both cytogenetic and molecular studies with thorough clinical assessment and suggest that given the high sensitivity of newer molecular cytogenetic techniques, careful interpretation of results is critical in the context of ring chromosomes.

journal_name

Cytogenet Genome Res

authors

Kaylor J,Alfaro M,Ishwar A,Sailey C,Sawyer J,Zarate YA

doi

10.1159/000368649

subject

Has Abstract

pub_date

2014-01-01 00:00:00

pages

104-8

issue

2

eissn

1424-8581

issn

1424-859X

pii

000368649

journal_volume

144

pub_type

杂志文章
  • Cytogenetic Characterization of a Small Evolutionary Rearrangement Involving Chromosomes BTA21 and OAR18.

    abstract::Both cattle (Bos taurus) and sheep (Ovis aries) belong to the Bovidae family but to different subfamilies, Bovinae and Caprinae, respectively. From a chromosomal point of view, apart from the already known centric fusions (that occurred during the evolutionary process in the Bovidae family) and the small differences i...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000507645

    authors: De Lorenzi L,Pauciullo A,Iannuzzi A,Parma P

    更新日期:2020-01-01 00:00:00

  • Meiotic mutations in rye Secale cereale L.

    abstract::Spontaneous meiotic mutations of winter rye Secale cereale L. (2n = 14) were revealed in inbred F2 progenies, which were obtained by self-pollination of F1 hybrids resulting from crosses of individual plants of cultivar Vyatka or weedy rye with plants of self-fertile inbred lines. The mutations cause partial or comple...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000082403

    authors: Sosnikhina SP,Mikhailova EI,Tikholiz OA,Priyatkina SN,Smirnov VG,Dadashev SY,Kolomiets OL,Bogdanov YF

    更新日期:2005-01-01 00:00:00

  • Fixed and unstable I-related transposable elements in heterochromatin of Drosophila melanogaster.

    abstract::Transposable elements are disproportionately abundant in the heterochromatin of Drosophila melanogaster. Among the forces contributing to this bias in genomic distribution, fixation due to positive selection has been put forward. We have studied I-related elements which are located in pericentromeric heterochromatin a...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000084950

    authors: Junakovic N,Fortunati D,Soriano S

    更新日期:2005-01-01 00:00:00

  • Genome stability in Arabidopsis cells exhibiting alternative lengthening of telomeres.

    abstract::Indefinite proliferation of eukaryotic cells depends on telomerase that counteracts the depletion of DNA from chromosome termini due to the end replication problem. The requirement for telomerase can, under certain conditions, be circumvented by employing homologous recombination-based mechanisms for telomere maintena...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000167827

    authors: Akimcheva S,Zellinger B,Riha K

    更新日期:2008-01-01 00:00:00

  • Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures.

    abstract::We report the first case of an 18p11.32 deletion, detected by array CGH, associated with a drug-resistant form of atypical absence epilepsy, global developmental delay and no signs of holoprosencephaly (HPE). In particular, this region encompasses 19 genes, and none of these genes have been strictly associated with ep...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000438502

    authors: Verrotti A,Palka C,Prezioso G,Alfonsi M,Calabrese G,Palka G,Chiarelli F

    更新日期:2015-01-01 00:00:00

  • Environmental hazard in the aetiology of somatic and germ cell aneuploidy.

    abstract::Sources of environmental exposures to potentially aneugenic agents are many and include occupational and therapeutic exposures, and exposures associated with lifestyle habits. In this present study, some of these agents and exposure scenarios are discussed that involve potentially large population targets and/or seem ...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章,评审

    doi:10.1159/000323284

    authors: Pacchierotti F,Eichenlaub-Ritter U

    更新日期:2011-01-01 00:00:00

  • High-resolution organization of mouse centromeric and pericentromeric DNA.

    abstract::We studied the organization of mouse satellite 3 and 4 (MS3 and MS4) in comparison with major (MaSat) and minor (MiSat) DNA sequences, located in the centromeric and pericentromeric regions of mouse telocentric chromosomes by fiber-FISH. The centromeric region consists of a small block of MiSat and MS3 followed by a p...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000089878

    authors: Kuznetsova I,Podgornaya O,Ferguson-Smith MA

    更新日期:2006-01-01 00:00:00

  • Nuclear bud formation: a novel manifestation of Zidovudine genotoxicity.

    abstract::Normal diploid somatic mammalian cell division generates 2 daughter cells as a result of a strict and well-controlled mitotic process. However, some defects during the progression of that process could generate an unbalanced distribution of chromosomes, aneuploidy and eventually, a malignant phenotype. Previous observ...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000298794

    authors: Dutra A,Pak E,Wincovitch S,John K,Poirier MC,Olivero OA

    更新日期:2010-01-01 00:00:00

  • Comparative mapping in equids: the asine X chromosome is rearranged compared to horse and Hartmann's mountain zebra.

    abstract::The X chromosomes of the extant equids, in general, share morphology and banding pattern similarities. However, the donkey X is, in part, an exception because of significantly different centromeric index and variant banding patterns in the pericentromeric region. To verify the underlying molecular basis of this differ...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000063050

    authors: Raudsepp T,Lear TL,Chowdhary BP

    更新日期:2002-01-01 00:00:00

  • The chicken RH map: current state of progress and microchromosome mapping.

    abstract::The ChickRH6 radiation hybrid panel has been used to construct consensus chromosome radiation hybrid (RH) maps of the chicken genome. Markers genotyped were either from throughout the genome or targeted to specific chromosomes and a large proportion (one third) of data was the result of collaborative efforts. Altogeth...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000103160

    authors: Morisson M,Denis M,Milan D,Klopp C,Leroux S,Bardes S,Pitel F,Vignoles F,Gérus M,Fillon V,Douaud M,Vignal A

    更新日期:2007-01-01 00:00:00

  • Chromosomal Rearrangements during Turtle Evolution Altered the Synteny of Genes Involved in Vertebrate Sex Determination.

    abstract::Sex-determining mechanisms (SDMs) set an individual's sexual fate by its genotype (genotypic sex determination, GSD) or environmental factors like temperature (temperature- dependent sex determination, TSD), as in turtles where the GSD "trigger" remains unknown. SDMs co-evolve with turtle chromosome number, perhaps be...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000497302

    authors: Lee L,Montiel EE,Navarro-Domínguez BM,Valenzuela N

    更新日期:2019-01-01 00:00:00

  • Oncogenic Properties of Candidate Oncogenes in Chromosome Region 17p11.2p12 in Human Osteosarcoma.

    abstract::Osteosarcomas are primary tumors of bone that most often develop in adolescents. They are characterized by complex genomic changes including amplifications, deletions, and translocations. The chromosome region 17p11.2p12 is frequently amplified in human high grade osteosarcomas (25% of cases), suggesting the presence ...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000451046

    authors: Both J,Wu T,Ten Asbroek AL,Baas F,Hulsebos TJ

    更新日期:2016-01-01 00:00:00

  • Molecular and Cytogenetic Characterization of a Powdery Mildew-Resistant Wheat-Aegilops mutica Partial Amphiploid and Addition Line.

    abstract::Aegilops mutica Boiss., a diploid species (2n = 2x = 14, TT), has been rarely studied before. In this research, a hexaploid wheat (cv. Chinese Spring)-Ae. mutica partial amphiploid and a wheat-Ae. mutica addition line were characterized by chromosome karyotyping, FISH using oligonucleotides Oligo-pTa535-1, Oligo-pSc11...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000443625

    authors: Liu C,Li GR,Gong WP,Li GY,Han R,Li HS,Song JM,Liu AF,Cao XY,Chu XS,Yang ZJ,Huang CY,Zhao ZD,Liu JJ

    更新日期:2015-01-01 00:00:00

  • Contrasting Rates of LINE-1 Amplification among New World Primates of the Atelidae Family.

    abstract::LINE-1 (L1) retrotransposons constitute the dominant category of transposons in mammalian genomes. L1 elements are active in the vast majority of mammals, and only a few cases of L1 extinction have been documented. The only possible case of extinction in primates was suggested for South American spider monkeys. Howeve...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000490481

    authors: Sookdeo A,Ruiz-García M,Schneider H,Boissinot S

    更新日期:2018-01-01 00:00:00

  • Heteromorphic sex chromosome system with an exceptionally large Y chromosome in a catfish Steindachneridion sp. (Pimelodidae).

    abstract::The chromosomes and banding patterns of Steindachneridion sp., a large catfish (Pimelodidae), endemic to the Iguaçu River, Brazil, were analyzed using conventional (C-, G-banding) and restriction enzyme banding methods. The same diploid number (2n = 56) as in other members of the genus and the family was found but the...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000089888

    authors: Swarça AC,Fenocchio AS,Cestari MM,Bertollo LA,Dias AL

    更新日期:2006-01-01 00:00:00

  • A ZZ/ZW sex chromosome system in the thick-tailed Gecko ( Underwoodisaurus milii; Squamata: Gekkota: Carphodactylidae), a member of the ancient gecko lineage.

    abstract::Geckos (Gekkota) are a highly diversified group of lizards with an exceptional diversity in sex-determining systems. Despite this intriguing documented variability, data on sex determination in many lineages is still scarce. Here, we document the previously overlooked heteromorphic ZZ/ZW sex chromosomes in the thick-t...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000358847

    authors: Pokorná M,Rens W,Rovatsos M,Kratochvíl L

    更新日期:2014-01-01 00:00:00

  • Squamate Chromosome Size and GC Content Assessed by Flow Karyotyping.

    abstract::Chromosome homologies in reptiles have been investigated extensively by gene mapping and chromosome painting. Relative chromosome size can be estimated roughly from conventional karyotypes, but chromosome GC content cannot be evaluated by any of these approaches. However, GC content can be obtained by whole-genome seq...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000497265

    authors: Kasai F,O'Brien PCM,Ferguson-Smith MA

    更新日期:2019-01-01 00:00:00

  • Interphase M-FISH applications using commercial probes in prenatal and PGD diagnostics.

    abstract::Early, rapid and reliable diagnosis is of first priority in prenatal medicine. The combination of specific sonographic markers (e.g. nuchal translucency) and biochemical parameters in maternal serum (e.g. free beta-human chorionic gonadotropin, pregnancy-associated plasma protein A), has already dramatically improved ...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000094217

    authors: Stumm M,Wegner RD,Bloechle M,Eckel H

    更新日期:2006-01-01 00:00:00

  • Interspecies comparison of neuroglobin, cytoglobin and myoglobin: sequence evolution and candidate regulatory elements.

    abstract::Neuroglobin and cytoglobin are two novel members of the vertebrate globin family. Their physiological role is poorly understood, although both proteins bind oxygen reversibly and may be involved in cellular oxygen homeostasis. Here we investigate the selective constraints on coding and non-coding sequences of the neur...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000078011

    authors: Wystub S,Ebner B,Fuchs C,Weich B,Burmester T,Hankeln T

    更新日期:2004-01-01 00:00:00

  • Evidence of Rubus Yellow Net Virus Integration into the Red Raspberry Genome.

    abstract::Rubus yellow net virus (RYNV) infects Rubus spp., causing a severe decline when present in mixed infections with other viruses. RYNV belongs to the family Caulimoviridae, also known as plant pararetroviruses, which can exist as episomal or integrated elements (endogenous). Most of integrated pararetroviruses are nonin...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000509845

    authors: Diaz-Lara A,Mosier NJ,Stevens K,Keller KE,Martin RR

    更新日期:2020-01-01 00:00:00

  • Evolution of Bird Sex Chromosomes Narrated by Repetitive Sequences: Unusual W Chromosome Enlargement in Gallinula melanops (Aves: Gruiformes: Rallidae).

    abstract::Among birds, species with the ZZ/ZW sex determination system generally show significant differences in morphology and size between the Z and W chromosomes (with the W usually being smaller than the Z). In the present study, we report for the first time the karyotype of the spot-flanked gallinule (Gallinula melanops) b...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000501381

    authors: Gunski RJ,Kretschmer R,Santos de Souza M,de Oliveira Furo I,Barcellos SA,Costa AL,Cioffi MB,de Oliveira EHC,Del Valle Garnero A

    更新日期:2019-01-01 00:00:00

  • The cytogenetics of homologous chromosome pairing in meiosis in plants.

    abstract::Three activities hallmark meiotic cell division: homologous chromosome pairing, synapsis, and recombination. Recombination and synapsis are well-studied but homologous pairing still holds many black boxes. In the past several years, many studies in plants have yielded insights into the mechanisms of chromosome pairing...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章,评审

    doi:10.1159/000121080

    authors: Bozza CG,Pawlowski WP

    更新日期:2008-01-01 00:00:00

  • Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98.

    abstract::A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy daughter had the same translocation and no renal AML at the...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000479463

    authors: Thibodeau ML,Steinraths M,Brown L,Zong Z,Shomer N,Taubert S,Mungall KL,Ma YP,Mueller R,Birol I,Lehman A

    更新日期:2017-01-01 00:00:00

  • Anti-phosphorylated histone H2AThr120: a universal microscopic marker for centromeric chromatin of mono- and holocentric plant species.

    abstract::Based on the analysis of 20 different monocot and eudicot species, we propose that the centromeric distribution of the phosphorylated histone H2AThr120 is evolutionary highly conserved across species with mono- and holocentric chromosomes. Therefore, antibodies recognizing the phosphorylated threonine 120 of the histo...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000360018

    authors: Demidov D,Schubert V,Kumke K,Weiss O,Karimi-Ashtiyani R,Buttlar J,Heckmann S,Wanner G,Dong Q,Han F,Houben A

    更新日期:2014-01-01 00:00:00

  • A GC-rich satellite DNA and karyology of the bivalve mollusk Donax trunculus: a dominance of GC-rich heterochromatin.

    abstract::We characterized the DTF2 satellite DNA family of the clam Donaxtrunculus and compared its chromosomal localization with cytogenetic data revealed by fluorochrome banding, C-banding, and 28S rDNA FISH. In contrast to the other satellites detected previously in this species, DTF2 is an abundant (2%) GC-rich satellite t...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000200089

    authors: Petrović V,Pérez-García C,Pasantes JJ,Satović E,Prats E,Plohl M

    更新日期:2009-01-01 00:00:00

  • mBAND: a high resolution multicolor banding technique for the detection of complex intrachromosomal aberrations.

    abstract::Precise breakpoint definition of chromosomal rearrangements using conventional banding techniques often fails, especially when more than two breakpoints are involved. The classic banding procedure results in a pattern of alternating light and dark bands. Hence, in banded chromosomes a specific chromosomal band is rath...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000077521

    authors: Chudoba I,Hickmann G,Friedrich T,Jauch A,Kozlowski P,Senger G

    更新日期:2004-01-01 00:00:00

  • Analysis using sperm-FISH of a putative interchromosomal effect in boars carrying reciprocal translocations.

    abstract::The occurrence of interchromosomal effects (ICE) in reciprocal translocation carriers still remains contradictory in the human literature. We used the pig as an animal model to investigate whether the structure of the reciprocal translocations as well as the size and/or type of the chromosomes not involved in the rear...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000245920

    authors: Bonnet-Garnier A,Guardia S,Pinton A,Ducos A,Yerle M

    更新日期:2009-01-01 00:00:00

  • De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.

    abstract::Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly. On the other hand, gain of dosage of this gene causes the MECP2 duplication...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000330917

    authors: Mayo S,Monfort S,Roselló M,Orellana C,Oltra S,Armstrong J,Català V,Martínez F

    更新日期:2011-01-01 00:00:00

  • Cytogenetic Assessment of the Rat Cell Line CLS-ACI-1: An in vitro Cell Model for Mycn Overexpression.

    abstract::Breast cancer is a complex and heterogeneous disease, and the establishment of cell models in order to properly study the disease at the molecular and cellular level is of utmost importance. Here, we present the cytogenetic characterization and gene expression analysis of the tumoral mammary rat cell line CLS-ACI-1. T...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章

    doi:10.1159/000441374

    authors: Meles S,Adega F,Castro J,Chaves R

    更新日期:2015-01-01 00:00:00

  • Epigenetic regulation of telomere maintenance.

    abstract::As chromatin structures, telomeres undergo epigenetic regulation of their maintenance and function. In plants, these processes are likely of a higher complexity than in animals or yeasts, as exemplified by methylation of cytosines in plant telomeric DNA or reversible developmental regulation of plant telomerase. We hi...

    journal_title:Cytogenetic and genome research

    pub_type: 杂志文章,评审

    doi:10.1159/000360775

    authors: Fojtová M,Fajkus J

    更新日期:2014-01-01 00:00:00