Summary: Mapping of the KARYOTYPE of a cell.

Top Publications

  1. Lo Y. Non-invasive prenatal testing using massively parallel sequencing of maternal plasma DNA: from molecular karyotyping to fetal whole-genome sequencing. Reprod Biomed Online. 2013;27:593-8 pubmed publisher
    ..Fetal genome-wide molecular karyotyping and whole-genome sequencing have now been demonstrated in a number of proof-of-concept studies...
  2. Bruschi D, Busin C, Toledo L, Vasconcellos G, Strüssmann C, Weber L, et al. Evaluation of the taxonomic status of populations assigned to Phyllomedusa hypochondrialis (Anura, Hylidae, Phyllomedusinae) based on molecular, chromosomal, and morphological approach. BMC Genet. 2013;14:70 pubmed publisher
    ..hypochondrialis is related to that in genotypes, a cytogenetic analysis was combined with phylogenetic inferences based on mitochondrial and nuclear sequences...
  3. Ben David U, Mayshar Y, Benvenisty N. Virtual karyotyping of pluripotent stem cells on the basis of their global gene expression profiles. Nat Protoc. 2013;8:989-97 pubmed publisher
    ..This expression-based karyotyping (e-karyotyping) protocol uses gene expression microarray data (either originally generated or derived from the ..
  4. Yu S, Jiang P, Choy K, Chan K, Won H, Leung W, et al. Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS ONE. 2013;8:e60968 pubmed publisher
    ..In this report, we reported a procedure for performing noninvasive prenatal karyotyping at 3 Mb resolution across the whole genome through the massively parallel sequencing of maternal plasma DNA...
  5. Pieczarka J, Gomes A, Nagamachi C, Rocha D, Rissino J, O Brien P, et al. A phylogenetic analysis using multidirectional chromosome painting of three species (Uroderma magnirostrum, U. bilobatum and Artibeus obscurus) of subfamily Stenodermatinae (Chiroptera-Phyllostomidae). Chromosome Res. 2013;21:383-92 pubmed publisher
    ..Based on this, we are able to suggest an ancestral karyotype for Phyllostomidae. Our cladistic analysis is an independent confirmation using multidirectional chromosome painting of the previous Phyllostomidae phylogenies. ..
  6. Afable M, Wlodarski M, Makishima H, Shaik M, Sekeres M, Tiu R, et al. SNP array-based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes. Blood. 2011;117:6876-84 pubmed publisher
    ..Combined metaphase and SNP-A karyotyping improved detection of chromosomal lesions: 19% and 54% of AA and hMDS cases harbored clonal abnormalities ..
  7. Bianchi D, Platt L, Goldberg J, Abuhamad A, Sehnert A, RAVA R. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012;119:890-901 pubmed publisher
    ..ClinicalTrials.gov, www.clinicaltrials.gov, NCT01122524. II. ..
  8. Nishino K, Toyoda M, Yamazaki Inoue M, Fukawatase Y, Chikazawa E, Sakaguchi H, et al. DNA methylation dynamics in human induced pluripotent stem cells over time. PLoS Genet. 2011;7:e1002085 pubmed publisher
    ..Taken together, random methylation and convergence are driving forces for long-term reprogramming of iPSCs to ESCs. ..
  9. Kawankar N, Vundinti B. Cytogenetic abnormalities in myelodysplastic syndrome: an overview. Hematology. 2011;16:131-8 pubmed publisher
    ..In this review, we summarize the cytogenetic abnormalities in MDS from various parts of the world...

More Information


  1. Bruno D, White S, Ganesamoorthy D, Burgess T, Butler K, Corrie S, et al. Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping. J Med Genet. 2011;48:831-9 pubmed publisher
    ..However, there remains little specific information on the clinical utility of this genotyping data. Molecular karyotyping, using SNP array, was performed on 5000 clinical samples...
  2. Cabral de Mello D, Oliveira S, de Moura R, Martins C. Chromosomal organization of the 18S and 5S rRNAs and histone H3 genes in Scarabaeinae coleopterans: insights into the evolutionary dynamics of multigene families and heterochromatin. BMC Genet. 2011;12:88 pubmed publisher
    ..These data provide evidence that different evolutionary forces act at the heterochromatin and the 45S rDNA loci compared to the 5S rRNA and histone H3 genes during the evolution of the Scarabainae karyotypes. ..
  3. Targueta C, Rivera M, Lourenço L. Karyotypic differentiation via 2n reduction and a finding of a case of triploidy in anurans of the genus Engystomops (Anura, Leiuperidae). Genetica. 2011;139:1339-47 pubmed publisher
    ..Also in this species, it was found the first case of natural polyploidy of the genus Engystomops...
  4. Lindhardt Johansen M, Hagen C, Rajpert De Meyts E, Kjærgaard S, Petersen B, Skakkebæk N, et al. 45,X/46,XY mosaicism: phenotypic characteristics, growth, and reproductive function--a retrospective longitudinal study. J Clin Endocrinol Metab. 2012;97:E1540-9 pubmed publisher
    ..Short stature and 45,X/46,XY mosaicism seem associated, but patients appear to benefit from GH treatment. Histology from two patients with biopsies from early childhood indicates that CIS originates before puberty. ..
  5. Svartman M. Chromosome evolution in Xenarthra: new insights from an ancient group. Cytogenet Genome Res. 2012;137:130-43 pubmed publisher
  6. Gijsbers A, Ruivenkamp C. Molecular karyotyping: from microscope to SNP arrays. Horm Res Paediatr. 2011;76:208-13 pubmed publisher
    ..For many years conventional karyotyping has been a successful tool to detect such chromosomal rearrangements...
  7. Zehentner B, Hartmann L, Johnson K, Stephenson C, Chapman D, de Baca M, et al. Array-based karyotyping in plasma cell neoplasia after plasma cell enrichment increases detection of genomic aberrations. Am J Clin Pathol. 2012;138:579-89 pubmed
    ..We conclude that aCGH after plasma cell enrichment, in combination with FISH, is a valuable approach for routine clinical use in achieving a more complete genetic characterization of patients with PCN. ..
  8. Parisi F, Micsinai M, Strino F, Ariyan S, Narayan D, Bacchiocchi A, et al. Integrated analysis of tumor samples sheds light on tumor heterogeneity. Yale J Biol Med. 2012;85:347-61 pubmed
    ..The goal of the present study was to integrate copy number analyses from SNP-arrays and karyotyping, gene expression profiling, and pathway analyses to detect heterogeneity, identify driver mutations, and ..
  9. Guilherme R, Bragagnolo S, Pellegrino R, Christofolini D, Takeno S, Carvolheira G, et al. Clinical, cytogenetic and molecular study in a case of r(3) with 3p deletion and review of the literature. Cytogenet Genome Res. 2011;134:325-30 pubmed publisher
    ..This is the first patient with r(3) studied using molecular techniques that determined the exact breakpoints in order to establish a better karyotype-phenotype correlation...
  10. Dong H, Zhang H, Liang J, Yan H, Chen Y, Shen Y, et al. Digital karyotyping reveals probable target genes at 7q21.3 locus in hepatocellular carcinoma. BMC Med Genomics. 2011;4:60 pubmed publisher
    ..Subchromosomal amplifications and deletions accounted for major genomic alterations occurred in HCC. Digital karyotyping was an effective method for analyzing genome-wide chromosomal aberrations at high resolution...
  11. Bao B, Zhang L, Hu H, Yin S, Liang Z. Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report. BMC Med Genet. 2012;13:63 pubmed publisher
    ..1 may be critical for cardiogenesis. However, the exact relationship and mechanism of how DAAM1 and KIAA0666 deletion contributes to the onset of CHD is yet to be determined. ..
  12. Lichtenbelt K, Knoers N, Schuring Blom G. From karyotyping to array-CGH in prenatal diagnosis. Cytogenet Genome Res. 2011;135:241-50 pubmed publisher
    Conventional karyotyping detects chromosomal anomalies in up to 35% of pregnancies with fetal ultrasound anomalies, depending on the number and type of these anomalies...
  13. Kasai F, O Brien P, Ferguson Smith M. Reassessment of genome size in turtle and crocodile based on chromosome measurement by flow karyotyping: close similarity to chicken. Biol Lett. 2012;8:631-5 pubmed publisher
    ..These data suggest that a common ancestor of birds, turtles and crocodiles had a small genome size and a chromosomal size-dependent GC bias, distinct from the squamate lineage...
  14. Cazaux B, Catalan J, Veyrunes F, Douzery E, Britton Davidian J. Are ribosomal DNA clusters rearrangement hotspots?: a case study in the genus Mus (Rodentia, Muridae). BMC Evol Biol. 2011;11:124 pubmed publisher
    ..In agreement with recent studies, these results suggest that additional factors such as modifications of the epigenetic state of DNA may be required to trigger evolutionary plasticity. ..
  15. Sato Otsubo A, Sanada M, Ogawa S. Single-nucleotide polymorphism array karyotyping in clinical practice: where, when, and how?. Semin Oncol. 2012;39:13-25 pubmed publisher
    Single-nucleotide polymorphism array (SNP-A) karyotyping is a new technology that has enabled genome-wide detection of genetic lesions in human cancers, including hematopoietic neoplasms...
  16. Shaffer L, Rosenfeld J, Dabell M, Coppinger J, Bandholz A, Ellison J, et al. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn. 2012;32:986-95 pubmed publisher
    ..The aim of this study is to understand the diagnostic utility of comparative genomic hybridization (CGH)-based microarrays for pregnancies with abnormal ultrasound findings...
  17. He W, Qin Q, Liu S, Li T, Wang J, Xiao J, et al. Organization and variation analysis of 5S rDNA in different ploidy-level hybrids of red crucian carp × topmouth culter. PLoS ONE. 2012;7:e38976 pubmed publisher
  18. Nyquist K, Panagopoulos I, Thorsen J, Haugom L, Gorunova L, Bjerkehagen B, et al. Whole-transcriptome sequencing identifies novel IRF2BP2-CDX1 fusion gene brought about by translocation t(1;5)(q42;q32) in mesenchymal chondrosarcoma. PLoS ONE. 2012;7:e49705 pubmed publisher
    ..This demonstrates that genetic heterogeneity exists in mesenchymal chondrosarcoma...
  19. Wapner R, Martin C, Levy B, Ballif B, Eng C, Zachary J, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367:2175-84 pubmed publisher
    ..We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis.
  20. Xiong Z, Gaeta R, Pires J. Homoeologous shuffling and chromosome compensation maintain genome balance in resynthesized allopolyploid Brassica napus. Proc Natl Acad Sci U S A. 2011;108:7908-13 pubmed publisher
    ..These data on resynthesized B. napus and the correlation of fertility with additive karyotypes cast light on the origins and establishment of natural B. napus. ..
  21. Rigolin G, Cibien F, Martinelli S, Formigaro L, Rizzotto L, Tammiso E, et al. Chromosome aberrations detected by conventional karyotyping using novel mitogens in chronic lymphocytic leukemia with "normal" FISH: correlations with clinicobiologic parameters. Blood. 2012;119:2310-3 pubmed publisher
    ..In patients with chronic lymphocytic leukemia with normal FISH, karyotypic aberrations by conventional cytogenetics with novel mitogens identify a subset of cases with adverse prognostic features. ..
  22. Powers M, Alvarez K, Kim H, Monzon F. Molecular classification of adult renal epithelial neoplasms using microRNA expression and virtual karyotyping. Diagn Mol Pathol. 2011;20:63-70 pubmed publisher
    ..In addition, the lack of correlation between miRNA expression and virtual karyotype suggests a non-copy-number-related mechanism for miRNA gene expression regulation in renal neoplasia. ..
  23. Yi J, Huh J, Kim H, Kim S, Kim H, Kim Y, et al. Adverse prognostic impact of abnormal lesions detected by genome-wide single nucleotide polymorphism array-based karyotyping analysis in acute myeloid leukemia with normal karyotype. J Clin Oncol. 2011;29:4702-8 pubmed publisher
    ..Multivariate analyses showed that detection of abnormal SNP lesions by SNP-A karyotyping results in an unfavorable prognostic value for overall survival (hazard ratio [HR], 2.69; 95% CI, 1.50 to 4...
  24. Fiorentino F, Caiazzo F, Napolitano S, Spizzichino L, Bono S, Sessa M, et al. Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases. Prenat Diagn. 2011;31:1270-82 pubmed publisher
    ..A total of 1037 prenatal samples were processed in parallel using both aCGH and G-banding for standard karyotyping. Specimen types included amniotic fluid (89.0%), chorionic villus sampling (9.5%) and cultured amniocytes (1...
  25. Boormans E, Birnie E, Hoffer M, Macville M, Galjaard R, Schuring Blom G, et al. Economic evaluation of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis: a cost-minimization analysis. Arch Gynecol Obstet. 2012;285:67-75 pubmed publisher
    ..To assess the cost-effectiveness of Multiplex Ligation-dependent Probe Amplification (MLPA, P095 kit) compared to karyotyping. A cost-minimization analysis alongside a nationwide prospective clinical study of 4,585 women undergoing ..
  26. Palomaki G, Kloza E, Lambert Messerlian G, Haddow J, Neveux L, Ehrich M, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011;13:913-20 pubmed publisher
    ..Fetal karyotyping was compared with an internally validated, laboratory-developed test based on next-generation sequencing in 212 ..
  27. Dan S, Chen F, Choy K, Jiang F, Lin J, Xuan Z, et al. Prenatal detection of aneuploidy and imbalanced chromosomal arrangements by massively parallel sequencing. PLoS ONE. 2012;7:e27835 pubmed publisher
    Fetal chromosomal abnormalities are the most common reasons for invasive prenatal testing. Currently, G-band karyotyping and several molecular genetic methods have been established for diagnosis of chromosomal abnormalities...
  28. Chen G, Gulbranson D, Hou Z, Bolin J, Ruotti V, Probasco M, et al. Chemically defined conditions for human iPSC derivation and culture. Nat Methods. 2011;8:424-9 pubmed publisher
    ..This simplified E8 medium should facilitate both the research use and clinical applications of human ESCs and iPSCs and their derivatives, and should be applicable to other reprogramming methods. ..
  29. Cabral de Mello D, Moura R, Martins C. Cytogenetic mapping of rRNAs and histone H3 genes in 14 species of Dichotomius (Coleoptera, Scarabaeidae, Scarabaeinae) beetles. Cytogenet Genome Res. 2011;134:127-35 pubmed publisher
  30. Xiao B, Zhang J, Ji X, Jiang W, Hu J, Tao J. [Two cases of partial trisomy 8p derived from paternal reciprocal translocation or maternal insertion translocation: clinical features and genetic abnormalities]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011;28:247-50 pubmed publisher
    ..Parental karyotype analysis could help define the aberrant type and recurrent risk evaluation. In contract to routine karyotype analysis, aberrant regions could be mapped by array CGH with higher resolution and accuracy. ..
  31. Miyazaki T, Futaki S, Suemori H, Taniguchi Y, Yamada M, Kawasaki M, et al. Laminin E8 fragments support efficient adhesion and expansion of dissociated human pluripotent stem cells. Nat Commun. 2012;3:1236 pubmed publisher
    ..This culture system allows robust proliferation of hESCs and hiPSCs for therapeutic applications...
  32. Fang M, Storer B, Estey E, Othus M, Zhang L, Sandmaier B, et al. Outcome of patients with acute myeloid leukemia with monosomal karyotype who undergo hematopoietic cell transplantation. Blood. 2011;118:1490-4 pubmed publisher
    ..However, the 28% of MK(+) patients > 60 years had only a 6% 4-year survival rate after HCT, stressing the need for new approaches in these patients. ..
  33. Hahm C, Mun Y, Seong C, Chung W, Huh J. Additional genomic aberrations identified by single nucleotide polymorphism array-based karyotyping in an acute myeloid leukemia case with isolated del(20q) abnormality. Ann Lab Med. 2012;32:445-9 pubmed publisher
    ..additional genomic aberrations identified using whole-genome single nucleotide polymorphism array (SNP-A)-based karyotyping. A 39-yr-old man was diagnosed with AML without maturation...
  34. Kulemzina A, Nie W, Trifonov V, Staroselec Y, Vasenkov D, Volleth M, et al. Comparative chromosome painting of four Siberian Vespertilionidae species with Aselliscus stoliczkanus and human probes. Cytogenet Genome Res. 2011;134:200-5 pubmed publisher
    ..auritus chromosome 16/17 using the HSA 16 probe explaining the different G-banding pattern in comparison to the homologous Myotis chromosome 16/17...
  35. Cabral de Mello D, Cabrero J, López León M, Camacho J. Evolutionary dynamics of 5S rDNA location in acridid grasshoppers and its relationship with H3 histone gene and 45S rDNA location. Genetica. 2011;139:921-31 pubmed publisher
    ..These results are discussed in the light of possible mechanisms of spread that led to the extensive variation in the number of clusters observed for both rDNA types in acridid grasshoppers...
  36. Schellenberg A, Lin Q, Schüler H, Koch C, Joussen S, Denecke B, et al. Replicative senescence of mesenchymal stem cells causes DNA-methylation changes which correlate with repressive histone marks. Aging (Albany NY). 2011;3:873-88 pubmed
    ..Relevant chromosomal aberrations were not detected by karyotyping and SNP-microarrays...
  37. Strehle E, Gruszfeld D, Schenk D, Mehta S, Simonic I, Huang T. The spectrum of 4q- syndrome illustrated by a case series. Gene. 2012;506:387-91 pubmed publisher
    Deletions of the long arm of chromosome 4 detectable by cytogenetic analysis (standard karyotyping), fluorescent in situ hybridisation (FISH), multiplex ligation-dependent probe amplification (MLPA) or comparative genomic hybridisation (..
  38. Zawada A, Rogacev K, Hummel B, Grün O, Friedrich A, Rotter B, et al. SuperTAG methylation-specific digital karyotyping reveals uremia-induced epigenetic dysregulation of atherosclerosis-related genes. Circ Cardiovasc Genet. 2012;5:611-20 pubmed publisher
    ..We hypothesized that gene-specific epigenetic dysregulation in CKD exists, affecting genes pertinent to inflammation and atherosclerosis...
  39. Visani G, Sapienza M, Isidori A, Tripodo C, Laginestra M, Righi S, et al. SNPs array karyotyping reveals a novel recurrent 20p13 amplification in primary myelofibrosis. PLoS ONE. 2011;6:e27560 pubmed publisher
    ..In conclusion, we identified a novel highly recurrent genomic lesion in PMF patients, which definitely warrant further functional and clinical characterization. ..
  40. Coelho L, Cursino Santos J, Persinoti G, Rossi A, Martinez Rossi N. The Microsporum canis genome is organized into five chromosomes based on evidence from electrophoretic karyotyping and chromosome end mapping. Med Mycol. 2013;51:208-13 pubmed publisher
    ..These results can aid in improving the understanding of the genetic characterization of M. canis and the molecular epidemiology of dermatophytoses caused by this fungus. ..
  41. de Jong A, Dondorp W, Timmermans D, Van Lith J, de Wert G. Rapid aneuploidy detection or karyotyping? Ethical reflection. Eur J Hum Genet. 2011;19:1020-5 pubmed publisher
    ..at increased risk for trisomy 21, 13, and 18 should be offered stand-alone rapid aneuploidy detection (RAD) or karyotyping. In this paper, the ethical implications of a fast, relatively cheap and targeted RAD are examined...
  42. Trimborn M, Endres M, Bommer C, Janke U, Krüger J, Morawietz L, et al. Karyotyping of human chondrocytes in scaffold-assisted cartilage tissue engineering. Acta Biomater. 2012;8:1519-29 pubmed publisher
    ..Chondrocyte redifferentiation was analyzed by electron microscopy, histology and gene expression analysis. Karyotyping was performed using GTG banding and fluorescence in situ hybridization on a single cell basis...
  43. Găman A, Dobrea C, Rotaru I. A case of non-Hodgkin lymphoma in a patient with chronic myeloid leukemia. Rom J Morphol Embryol. 2013;54:1141-5 pubmed
    ..Further studies are required to clarify the pathogenetic relationship between chronic myeloid leukemia and non-Hodgkin lymphomas. ..
  44. Jiang Y, Qi Q, Zhou X, Geng F, Bai J, Hao N, et al. [Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities]. Zhonghua Fu Chan Ke Za Zhi. 2017;52:662-668 pubmed publisher
    ..These women accepted invasive prenatal diagnosis followed by karyotyping, parental fluorescence in situ hybridization or CMA validation...
  45. Eyüpoğlu D, Bozkurt S, Haznedaroglu I, Buyukasik Y, Güven D. The Impact of Variant Philadelphia Chromosome Translocations on the Clinical Course of Chronic Myeloid Leukemia. Turk J Haematol. 2016;33:60-5 pubmed publisher
    ..Mevcut verilerimiz, daha önce yap?lm??, tirozin kinaz inhibitörleri döneminde standart ve varyant translokasyonlar aras?nda prognoz aç?s?ndan farkl?l?k belirtmeyen çal??malarla uyumluluk göstermektedir. ..
  46. Cho C, Shin J, Nam M, Lim C, Lee C, Cho Y, et al. A Case Report of an Infant with Robertsonian Translocation (15;22)(q10;q10) and Literature Review. Ann Clin Lab Sci. 2016;46:102-5 pubmed
    ..Molecular studies associated with spinal muscular atrophy and progressive muscular dystrophy also showed negative findings. We suggest that rob(15;22) and deletion of 15p11.2 could be related to clinical presentation like this case. ..
  47. Weng C, Chen J, Sun L, Zhou Z, Feng X, Sun J, et al. A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets. J Hum Genet. 2016;61:223-7 pubmed publisher
    ..This novel mutation is de novo in mosaic pattern that may be induced during early postzygotic period. Taking mosaic somatic mutation of PHEX into consideration is strongly suggested in genetic counseling and etiology research for XLHR. ..
  48. Moeschler J, Shevell M. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014;134:e903-18 pubmed publisher
    ..Finally, the importance of intentional comanagement among families, the medical home, and the clinical genetics specialty clinic is discussed. ..
  49. Weber B, Kehl D, Bleul U, Behr L, Sammut S, Frese L, et al. In vitro fabrication of autologous living tissue-engineered vascular grafts based on prenatally harvested ovine amniotic fluid-derived stem cells. J Tissue Eng Regen Med. 2016;10:52-70 pubmed publisher
  50. Gulten T, Gorukmez O, Karkucak M, Ture M, Yakut T. Another small supernumerary marker chromosome derived from chromosome 9 in a Klinefelter patient. West Indian Med J. 2012;61:924-7 pubmed
    ..To our knowledge, this is the second case of Klinefelter syndrome with a small supernumerary marker chromosome derived from chromosome 9. ..
  51. Li S, Shen H, Jin Y, Liu X, Song Q, Miao Z. [Prenatal diagnosis of a Pallister-Killian syndrome case through analysis of a supernumerary chromosome using single nucleotide polymorphism array]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016;33:682-5 pubmed publisher
    ..The fetal sample was subjected to karyotyping analysis. The identified sSMC was subjected to genome-wide scan using a SNP microarray chip...
  52. Coci E, Auhuber A, Langenbach A, Mrasek K, Riedel J, Leenen A, et al. Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy. Cytogenet Genome Res. 2017;151:171-178 pubmed publisher
  53. Fujita A, Suzumura H, Nakashima M, Tsurusaki Y, Saitsu H, Harada N, et al. A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter. Am J Med Genet A. 2013;161A:1904-9 pubmed publisher
    ..This study reaffirms that the single nucleotide polymorphism (SNP) array is a powerful tool to screen for UPD in a single experiment, especially in cases of isodisomy. ..