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Page 1
Duplication 9q34 syndrome.
Allderdice PW, Eales B, Onyett H, Sprague W, Henderson K, Lefeuvre PA, Pal G. Allderdice PW, et al. Am J Hum Genet. 1983 Sep;35(5):1005-19. Am J Hum Genet. 1983. PMID: 6613995 Free PMC article.
Phenotypic, karyotypic, and developmental homology between affected children of carriers of an inverted insertion (9) (q22.1q34.3q34.1) led to recognition of a new chromosome syndrome: dup 9q34. Individuals with dup 9q34 have slight psychomotor retardation, understa …
Phenotypic, karyotypic, and developmental homology between affected children of carriers of an inverted insertion (9) (q22.1q34.3q34.1) led …
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Rots D, Rooney K, Relator R, Kerkhof J, McConkey H, Pfundt R, Marcelis C, Willemsen MH, van Hagen JM, Zwijnenburg P, Alders M, Õunap K, Reimand T, Fjodorova O, Berland S, Liahjell EB, Bojovic O, Kriek M, Ruivenkamp C, Bonati MT, Brunner HG, Vissers LELM, Sadikovic B, Kleefstra T. Rots D, et al. Clin Genet. 2024 Jun;105(6):655-660. doi: 10.1111/cge.14498. Epub 2024 Feb 21. Clin Genet. 2024. PMID: 38384171
In contrast, duplications of the 9q34.3 locus encompassing EHMT1 have been suggested to cause developmental disorders, but only limited information has been available. ...DNA methylation analysis revealed a weak DNAm profile for the cases with 9q34.3 dupli …
In contrast, duplications of the 9q34.3 locus encompassing EHMT1 have been suggested to cause developmental disorders, but onl …
3q26.31-q29 duplication and 9q34.3 microdeletion associated with omphalocele, ventricular septal defect, abnormal first-trimester maternal serum screening and increased nuchal translucency: prenatal diagnosis and aCGH characterization.
Chen CP, Lin CJ, Chen YY, Wang LK, Chern SR, Wu PS, Su JW, Chen LF, Town DD, Pan CW, Wang W. Chen CP, et al. Gene. 2013 Dec 10;532(1):80-6. doi: 10.1016/j.gene.2013.09.025. Epub 2013 Sep 18. Gene. 2013. PMID: 24055486 Review.
We present prenatal diagnosis and array comparative genomic hybridization characterization of 3q26.31-q29 duplication and 9q34.3 microdeletion in a fetus with omphalocele, ventricular septal defect, increased nuchal translucency, abnormal first-trimester maternal sc …
We present prenatal diagnosis and array comparative genomic hybridization characterization of 3q26.31-q29 duplication and 9q34 …
Duplication 9q34-->qter identified by chromosome painting.
Spinner NB, Lucas JN, Poggensee M, Jacquette M, Schneider A. Spinner NB, et al. Am J Med Genet. 1993 Mar 1;45(5):609-13. doi: 10.1002/ajmg.1320450519. Am J Med Genet. 1993. PMID: 8456834
Chromosome painting with probes from a chromosome 9 library identified this material as coming from chromosome 9, and cytogenetics established the duplication as 9q34-->qter. Comparison of this patient with others reported with partial dup(9q) documented excellen …
Chromosome painting with probes from a chromosome 9 library identified this material as coming from chromosome 9, and cytogenetics establish …
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D. Montanucci L, et al. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6. Nat Commun. 2023. PMID: 37474567 Free PMC article.
With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of w …
With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16 …
A girl with duplication 9q34 syndrome.
Gawlik-Kuklinska K, Iliszko M, Wozniak A, Debiec-Rychter M, Kardas I, Wierzba J, Limon J. Gawlik-Kuklinska K, et al. Am J Med Genet A. 2007 Sep 1;143A(17):2019-23. doi: 10.1002/ajmg.a.31847. Am J Med Genet A. 2007. PMID: 17663474
We report on a 17-year-old female with numerous developmental abnormalities associated with 46,XX,dup(9)(q33.3q34.1), where the duplication occurred de novo. The patient presented with dysmorphic features and notable psychomotor delays, manifestations similar to those desc …
We report on a 17-year-old female with numerous developmental abnormalities associated with 46,XX,dup(9)(q33.3q34.1), where the duplicati …
A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome.
Liu J, Hu H, Ma N, Jia Z, Zhou Y, Hu J, Wang H. Liu J, et al. Mol Cytogenet. 2016 Jul 25;9:54. doi: 10.1186/s13039-016-0267-3. eCollection 2016. Mol Cytogenet. 2016. PMID: 27462370 Free PMC article.
Multiplex ligation-dependent probe amplification (MLPA) also confirmed the duplication at 9qter. CONCLUSION: In this paper, we present an Asian fetus with TOF caused by a de novo 5.47 Mb duplication at 9q34.13-qter. Duplication of 9q34.13-qter s …
Multiplex ligation-dependent probe amplification (MLPA) also confirmed the duplication at 9qter. CONCLUSION: In this paper, we presen …
Aphallia in a patient with 9q34 duplication syndrome: a case report.
Meza-Espinoza JP, González-García JR, Patrón-Baro LI, González-Arreola RM, Contreras-Gutiérrez JA, Camberos-Barraza J, Madueña-Molina J, Camacho-Zamora A, Avendaño-Gálvez RI, Picos-Cárdenas VJ. Meza-Espinoza JP, et al. BMC Urol. 2025 May 22;25(1):133. doi: 10.1186/s12894-025-01818-3. BMC Urol. 2025. PMID: 40399931 Free PMC article.
His karyotype was 46,XY, der(15)t(9;15)(q34;p11)dn. An aCGH analysis revealed a duplication of ~ 9.7 Mb of the 9qter region containing 246 genes: arr[GRCh37] 9q34.11q34.3(131,348,076_141,019,088)x3. CONCLUSION: To our knowledge, this is the first case of aphallia po …
His karyotype was 46,XY, der(15)t(9;15)(q34;p11)dn. An aCGH analysis revealed a duplication of ~ 9.7 Mb of the 9qter region containin …
A new recurrent 9q34 duplication in pediatric T-cell acute lymphoblastic leukemia.
van Vlierberghe P, Meijerink JP, Lee C, Ferrando AA, Look AT, van Wering ER, Beverloo HB, Aster JC, Pieters R. van Vlierberghe P, et al. Leukemia. 2006 Jul;20(7):1245-53. doi: 10.1038/sj.leu.2404247. Epub 2006 May 4. Leukemia. 2006. PMID: 16673019
Fluorescence in situ hybridization (FISH) analysis revealed that this 9q34 amplification was in fact a 9q34 duplication on one chromosome and could be identified in 17-39 percent of leukemic cells at diagnosis. ...Episomal NUP214-ABL1 amplification and activa …
Fluorescence in situ hybridization (FISH) analysis revealed that this 9q34 amplification was in fact a 9q34 duplication …
94 results