Chromosome abnormalities without phenotypic consequences.

Abstract:

:Some changes in chromosome morphology, detected during cytogenetic analysis, are not associated with clinical defects. Therefore a proper discrimination of harmless variants from true abnormalities, especially during prenatal diagnosis, is crucial to allow precise counseling. In this review we described chromosome variants and examples of chromosome anomalies that are considered to be unrelated to phenotypic consequences. The correlation between the presence of marker chromosomes and a risk of clinical signs is also discussed. Structural rearrangements of heterochromatic material, satellite polymorphism, or fragile sites, are well-known examples of common chromosome variation. However, the absence of clinical effects has also been reported in some cases of chromosome abnormalities concerning euchromatin. Such euchromatic anomalies were divided into 2 categories: unbalanced chromosome abnormalities (UBCAs), such as deletions or duplications, and euchromatic variants (EVs). Recently so-called molecular karyotyping, especially whole-genome screening by the use of high-resolution array-CGH technique, contributed to revealing a high number of previously unknown small genomic variations, which seem to be asymptomatic, as they are present in phenotypically normal individuals.

journal_name

J Appl Genet

authors

Kowalczyk M,Srebniak M,Tomaszewska A

doi

10.1007/BF03194674

subject

Has Abstract

pub_date

2007-01-01 00:00:00

pages

157-66

issue

2

eissn

1234-1983

issn

2190-3883

pii

390

journal_volume

48

pub_type

杂志文章,评审
  • Genotoxicity of inhalation anaesthetics: DNA lesions generated by sevoflurane in vitro and in vivo.

    abstract::A moderate genotoxic activity of halothane and isoflurane applied as volatile anaesthetics has already been shown. The aim of this work was to estimate a potential genotoxicity of sevoflurane, introduced to clinical practice later than halothane and isoflurane. A genotoxic activity of all three compounds was estimated...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:

    authors: Szyfter K,Szulc R,Mikstacki A,Stachecki I,Rydzanicz M,Jałoszyński P

    更新日期:2004-01-01 00:00:00

  • The glyceraldehyde-3-phosphate dehydrogenase promoter of the food yeast Candida utilis strain NRRL Y-660 is functional in Agrobacterium tumefaciens.

    abstract::The glyceraldehyde-3-phosphate dehydrogenase promoter of the food yeast Candida utilis strain NRRL Y-660 was cloned to create a novel integrative vector for Agrobacterium tumefaciens-mediated transformation. The new binary vector harbors β-glucuronidase activity as reporter and kanamicin/geneticin resistance as select...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/s13353-013-0162-0

    authors: González T,Eng F,Fraga R,Fonseca J,Amores I

    更新日期:2013-11-01 00:00:00

  • The genetic diversity of group-1 homoeologs and characterization of novel LMW-GS genes from Chinese Xinjiang winter wheat landraces (Triticum aestivum L.).

    abstract::Group-1 homoelog genes in wheat genomes encode storage proteins and are the major determinants of wheat product properties. Consequently, understanding the genetic diversity of group-1 homoelogs and genes encoding storage proteins, especially the low-molecular-weight glutenins (LMW-GSs), within wheat landrace genomes ...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/s13353-020-00564-6

    authors: Hu X,Dai S,Yan Y,Liu Y,Zhang J,Lu Z,Wei Y,Zheng Y,Cong H,Yan Z

    更新日期:2020-09-01 00:00:00

  • QTL analysis of falling number and seed longevity in wheat (Triticum aestivum L.).

    abstract::Pre-harvest sprouting (PHS) and seed longevity (SL) are complex biological processes of major importance for agricultural production. In the present study, a recombinant inbred line (RIL) population derived from a cross between the German winter wheat (Triticum aestivum L.) cultivars History and Rubens was used to ide...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/s13353-017-0422-5

    authors: Börner A,Nagel M,Agacka-Mołdoch M,Gierke PU,Oberforster M,Albrecht T,Mohler V

    更新日期:2018-02-01 00:00:00

  • Inheritance of resistance to stripe rust in winter wheat cultivars Aquileja and Xian Nong 4.

    abstract::Winter wheat cultivars Aquileja (AQ) and Xian Nong 4(XN) were previously reported to possess durable, quantitative resistance to stripe rust disease. In the present study, AQ, XN and a susceptible wheat cultivar were reciprocally crossed in all 6 combinations. Parents, F1, F2, F3, BCP1 and BCP2 were used to determine ...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/BF03194656

    authors: Feng J,Zhang Z,Li G,Zhou Y,Wang H,Guo Q,Sun J

    更新日期:2007-01-01 00:00:00

  • De novo transcriptome of the whole-body of the gastropod mollusk Philomycus bilineatus, a pest with medical potential in China.

    abstract::Philomycus bilineatus is a highly common gastropod mollusk pest in China and is also utilized to treat infectious diseases. However, no genomic resources are available for this non-model species. In the present study, the transcriptomic analysis of P. bilineatus was completed. After sequencing using the next generatio...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/s13353-020-00566-4

    authors: Li Z,Yuan Y,Meng M,Hu P,Wang Y

    更新日期:2020-09-01 00:00:00

  • DNA asymmetry and the replicational mutational pressure.

    abstract::The mode of replication and organisation of bacterial genomes impose asymmetry on their nucleotide composition. The asymmetry is seen in coding and non-coding sequences and is reflected in the amino acid composition of proteins. The mechanisms generating asymmetry include: unequal mutation rates connected with replica...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:

    authors: Kowalczuk M,Mackiewicz P,Mackiewicz D,Nowicka A,Dudkiewicz M,Dudek MR,Cebrat S

    更新日期:2001-01-01 00:00:00

  • Urological anomalies in children with renal agenesis or multicystic dysplastic kidney.

    abstract::This study aimed to determine the frequency of associated urological abnormalities in children with unilateral renal agenesis (RA) or multicystic dysplastic kidney (MCDK). In total, 38 children (10 girls, 28 boys) were studied: 21 with RA and 17 with MCDK. In 14 children (37%) anomalies of the urinary tract were suspe...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/BF03194618

    authors: Krzemień G,Roszkowska-Blaim M,Kostro I,Wojnar J,Karpińska M,Sekowska R

    更新日期:2006-01-01 00:00:00

  • Gene expression profiling in skeletal muscle of Holstein-Friesian bulls with single-nucleotide polymorphism in the myostatin gene 5'-flanking region.

    abstract::Myostatin (GDF-8) is a key protein responsible for skeletal muscle growth and development, thus mutations in the mstn gene can have major economic and breeding consequences. The aim of the present study was to investigate myostatin gene expression and transcriptional profile in skeletal muscle of Holstein-Friesian (Bl...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/BF03195620

    authors: Sadkowski T,Jank M,Zwierzchowski L,Siadkowska E,Oprzadek J,Motyl T

    更新日期:2008-01-01 00:00:00

  • Statistical measures of uncertainty for branches in phylogenetic trees inferred from molecular sequences by using model-based methods.

    abstract::In recent years, the emphasis of theoretical work on phylogenetic inference has shifted from the development of new tree inference methods to the development of methods to measure the statistical support for the topologies. This paper reviews 3 approaches to assign support values to branches in trees obtained in the a...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章,评审

    doi:10.1007/BF03195249

    authors: Wróbel B

    更新日期:2008-01-01 00:00:00

  • Mouse models of atherosclerosis: explaining critical roles of lipid metabolism and inflammation.

    abstract::Atherosclerosis is the most common cause of death globally. It is a complex disease involving morphological and cellular changes in vascular walls. Studying molecular mechanism of the disease is hindered by disease complexity and lack of robust noninvasive diagnostics in human. Mouse models are the most popular animal...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章,评审

    doi:10.1007/s13353-013-0134-4

    authors: Mukhopadhyay R

    更新日期:2013-05-01 00:00:00

  • Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology.

    abstract::Autism spectrum disorder (ASD) is a set of neurodevelopmental conditions characterized by early-onset difficulties in social communication and unusually restricted, repetitive behavior and interests. Parental consanguinity may lead to higher risk of ASD and to more severe clinical presentations in the offspring. Studi...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/s13353-018-0472-3

    authors: Lahbib S,Leblond CS,Hamza M,Regnault B,Lemée L,Mathieu A,Jaouadi H,Mkaouar R,Youssef-Turki IB,Belhadj A,Kraoua I,Bourgeron T,Abdelhak S

    更新日期:2019-02-01 00:00:00

  • Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome.

    abstract::Treacher Collins syndrome (TCS) is associated with an abnormal differentiation of the first and second pharyngeal arches during fetal development. This causes mostly craniofacial deformities, which require numerous corrective surgeries. TCS is an autosomal dominant disorder and it occurs in the general population at a...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/s13353-012-0091-3

    authors: Marszałek-Kruk BA,Wójcicki P,Smigiel R,Trzeciak WH

    更新日期:2012-08-01 00:00:00

  • New PAH gene promoter KLF1 and 3'-region C/EBPalpha motifs influence transcription in vitro.

    abstract::Phenylketonuria (PKU) is a metabolic disease caused by mutations in the phenylalanine hydroxylase (PAH) gene. Although the PAH genotype remains the main determinant of PKU phenotype severity, genotype-phenotype inconsistencies have been reported. In this study, we focused on unanalysed sequences in non-coding PAH gene...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/s13353-016-0359-0

    authors: Klaassen K,Stankovic B,Kotur N,Djordjevic M,Zukic B,Nikcevic G,Ugrin M,Spasovski V,Srzentic S,Pavlovic S,Stojiljkovic M

    更新日期:2017-02-01 00:00:00

  • Associations of the IGF2 gene with growth and meat efficiency in Large White pigs.

    abstract::The insulin-like growth factor 2 gene (IGF2) has been described in several studies as a candidate gene for meat efficiency in pigs. IGF2 is a member of the growth factors family and has an effect on development of muscle tissue. The effect of IGF2 gene polymorphism on meat efficiency was analysed in a population of 12...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:

    authors: Kolaríková O,Putnová L,Urban T,Adámek J,Knoll A,Dvorák J

    更新日期:2003-01-01 00:00:00

  • Induction and characterization of streptomycin-resistant mutants in Capsicum praetermissum.

    abstract::Streptomycin-resistant mutants were isolated from mutagenised cotyledon explants of Capsicum praetermissum Heiser & Smith. The explants were mutagenised with N-ethyl-N-nitrosourea, which resulted in a high frequency of streptomycin-resistant mutants (18.0%) and a low frequency of chlorophyll-deficient (albino) mutants...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:

    authors: Venkataiah P,Christopher T,Subhash K

    更新日期:2005-01-01 00:00:00

  • Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.

    abstract::Cornelia de Lange syndrome (CdLS) is a rare multi-system genetic disorder characterised by growth and developmental delay, distinctive facial dysmorphism, limb malformations and multiple organ defects. The disease is caused by mutations in genes responsible for the formation and regulation of cohesin complex. About ha...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/s13353-012-0126-9

    authors: Kuzniacka A,Wierzba J,Ratajska M,Lipska BS,Koczkowska M,Malinowska M,Limon J

    更新日期:2013-02-01 00:00:00

  • Genetic determination of variability of barley doubled haploids inoculated with Fusarium culmorum (W.G.Sm.) Sacc. with regard to mycotoxin accumulation and reduction in yield traits.

    abstract::The genetic determination of variability of barley doubled haploid (DH) lines in regard of their susceptibility to Fusarium head blight caused by Fusarium culmorum was studied. The susceptibility was evaluated in 3-year field experiment on the basis of reduction in yield traits and myotoxin accumulation in infected ke...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:

    authors: Surma M,Adamski T,Chełkowski J,Goliński P,Kaczmarek Z,Kostecki M,Perkowski J,Wiśniewska H

    更新日期:2000-01-01 00:00:00

  • Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.

    abstract::Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned o...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/s13353-017-0397-2

    authors: Pronicka E,Ciara E,Halat P,Janiec A,Wójcik M,Rowińska E,Rokicki D,Płudowski P,Wojciechowska E,Wierzbicka A,Książyk JB,Jacoszek A,Konrad M,Schlingmann KP,Litwin M

    更新日期:2017-08-01 00:00:00

  • Quantitative trait loci with sex-specific effects for internal organs weights and hematocrit value in a broiler-layer cross.

    abstract::Rapid growth in broilers is associated with susceptibility to metabolic disorders such as pulmonary hypertension syndrome (ascites) and sudden death. This study describes a genome search for QTL associated with relative weight of cardio respiratory and metabolically important organs (heart, lungs, liver and gizzard), ...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/s13353-015-0325-2

    authors: Moura AS,Ledur MC,Boschiero C,Nones K,Pinto LF,Jaenisch FR,Burt DW,Coutinho LL

    更新日期:2016-05-01 00:00:00

  • Polymorphisms of the interleukin-15 gene and their associations with fatness and muscle fiber traits in chickens.

    abstract::Interleukin-15 (IL-15) is a cytokine that has been proposed to modulate skeletal muscle and adipose tissue mass. In the present study, an F(2) resource population of Gushi chickens crossed with Anka broilers was used to investigate the genetic effects of the chicken IL-15 gene. Two single nucleotide polymorphisms (SNP...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/s13353-012-0111-3

    authors: Lv SJ,Su L,Li H,Han RL,Sun GR,Kang XT

    更新日期:2012-11-01 00:00:00

  • Genetic background of cutaneous forms of lupus erythematosus: update on current evidence.

    abstract::This article reviews and updates current information on the possible genetic basis for cutaneous lupus erythematosus. The aetiology of this condition remains unknown and is believed to be multifactorial, involving genetic, environmental and retroviral factors. A genetic predisposition is probably the greatest risk fac...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章,评审

    doi:

    authors: Osmola A,Namysł J,Jagodziński PP,Prokop J

    更新日期:2004-01-01 00:00:00

  • Morphological diversity of androgenic carrot plants.

    abstract::The aim of this study was to evaluate phenotypic variation of R0 androgenic plants obtained from four seed sources and donor plants by anther culture. Several morphological traits (leaf size, petiole length, leaf division, cortex colour) and the range of diversity were evaluated. There was large variation in all trait...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:

    authors: Kozik EU,Nowak R,Kłosińska U,Górecka K,Krzyzanowska D,Górecki R

    更新日期:2002-01-01 00:00:00

  • A de novo interstitial 6q deletion in a boy with a split hand malformation.

    abstract::We report on a de novo interstitial deletion of (6)(q15q22.2) in a 5-year-old boy with developmental delay, microcephaly, facial dysmorphism, cryptorchidism, congenital heart defect, and split-hand malformation. Previous reports and this patient suggest that 6q21 may contain a gene or genes related either directly or ...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/BF03195240

    authors: Duran-Gonzalez J,Gutierrez-Angulo M,Garcia-Cruz D,Ayala Mde L,Padilla M,Davalos IP

    更新日期:2007-01-01 00:00:00

  • Length polymorphism of PCR-amplified genomic fragments of the Pregnancy-Associated Glycoprotein (PAG) gene family in the pig and some other domestic and wild mammals.

    abstract::Porcine pregnancy-associated glycoprotein genes (pPAG) are known as a multigene family, in which five members have been cloned and sequences of their cDNAs identified. Porcine PAG1 and pPAG3 genes, belonging to the pPAG1-like subfamily, both encode enzymatically inactive precursors. In contrast, cDNAs of pPAG2, pPAG4 ...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:

    authors: Szafrańska B,Panasiewicz G,Wacławik A

    更新日期:2001-01-01 00:00:00

  • A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features.

    abstract::To date, only two splice-site mutations within the TPM2 gene have been shown to be causative for congenital myopathies. While the majority of TPM2 gene mutations are causative for nemaline myopathy, cap disease or distal arthrogryposis, some mutations in this gene have been found to be associated with non-specific con...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/s13353-016-0368-z

    authors: Mroczek M,Kabzińska D,Chrzanowska KH,Pronicki M,Kochański A

    更新日期:2017-05-01 00:00:00

  • Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.

    abstract::Deoxyguanosine kinase deficiency (dGK) is a frequent cause of the hepatocerebral form of mitochondrial depletion syndrome (MDS). A group of 28 infants with severe progressive liver failure of unknown cause was recruited for post mortem search for deoxyguanosine kinase (DGUOK) gene mutations. Four affected patients (14...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/s13353-010-0008-y

    authors: Pronicka E,Węglewska-Jurkiewicz A,Taybert J,Pronicki M,Szymańska-Dębińska T,Karkucińska-Więckowska A,Jakóbkiewicz-Banecka J,Kowalski P,Piekutowska-Abramczuk D,Pajdowska M,Socha P,Sykut-Cegielska J,Węgrzyn G

    更新日期:2011-02-01 00:00:00

  • Proteolytic enzymes from generative organs of flowering plants (Angiospermae).

    abstract::Pollen proteases were discovered over 100 years ago, whereas the enzymes from female tissues have been used since the Roman era in simple biotechnological processes. In the last decade a great progress has been made in studies on plant proteases, including those from the generative organs. This paper reviews reports p...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章,评审

    doi:

    authors: Radłowski M

    更新日期:2005-01-01 00:00:00

  • Genome-wide identification, genomic organization and expression profiles of SlARR-B gene family in tomato.

    abstract::The type-B authentic response regulators (ARR-Bs) function as positive regulators of cytokinin signal transduction and play important roles in abiotic stress resistance and plant development. However, little of ARR-B family is known in tomato. In this study, we performed a comprehensive analysis of ARR-B family factor...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/s13353-020-00565-5

    authors: Wang J,Xia J,Song Q,Liao X,Gao Y,Zheng F,Yang C

    更新日期:2020-09-01 00:00:00

  • A new assay based on terminal restriction fragment length polymorphism of homocitrate synthase gene fragments for Candida species identification.

    abstract::Candida sp. have been responsible for an increasing number of infections, especially in patients with immunodeficiency. Species-specific differentiation of Candida sp. is difficult in routine diagnosis. This identification can have a highly significant association in therapy and prophylaxis. This work has shown a new ...

    journal_title:Journal of applied genetics

    pub_type: 杂志文章

    doi:10.1007/s13353-017-0394-5

    authors: Szemiako K,Śledzińska A,Krawczyk B

    更新日期:2017-08-01 00:00:00