Journal ArticleDOI
Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico-pathological studies.
Massimo Carella,Filippo Spreafico,Orazio Palumbo,Orazio Palumbo,Clelia Tiziana Storlazzi,Silvia Tabano,Monica Miozzo,Lucia Miglionico,Savino Calvano,Giulia Sindici,Beatrice Gamba,Luciana Impera,Paola Collini,Leopoldo Zelante,Paolo Radice,Daniela Perotti +15 more
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TLDR
The molecular characterization of the two neoplasias was consistent with their independent origin and showed that they arose from the two distinct cellular clones with the ring chromosome, indicating that this anomaly is likely to have caused the patient's susceptibility to WT development.Abstract:
We report on a boy with three cell lines: 46,XY, r(11)(p15.5,q25)[90]/45,XY,-11 [8]/47,XY, r(11)(p15.5,q25)x2[2], with minor anomalies and mental retardation who developed asynchronous bilateral Wilms tumors (WTs). Array comparative genomic hybridization (CGH) performed on peripheral blood leukocytes of the patient led to the identification of a constitutional duplication of 4.8 Mb at 11p15.5–11p15.4. This duplication was found to involve the chromosome of paternal origin, and occurred in tandem on the ring chromosome 11. Despite the constitutive duplication of the paternal 11p15 chromosome region, the patient showed no sign of Beckwith-Wiedemann syndrome. However, the molecular characterization of the two neoplasias was consistent with their independent origin and showed that they arose from the two distinct cellular clones with the ring chromosome, indicating that this anomaly is likely to have caused the patient's susceptibility to WT development. © 2010 Wiley-Liss, Inc.read more
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Journal ArticleDOI
The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum.
Alessandro Mussa,Kelly A. Duffy,Diana Carli,Jessica R Griff,Riccardo Fagiano,Jonida Kupa,Garrett M. Brodeur,Garrett M. Brodeur,Giovanni Battista Ferrero,Jennifer M. Kalish,Jennifer M. Kalish +10 more
TL;DR: Age at WT diagnosis was compared against data collected through the NIH Surveillance, Epidemiology, and End Results Program (SEER) registry and patients with BWS had a significantly higher incidence of WT diagnoses between age 12 and 84 months compared to patients in the SEER registry.
Journal ArticleDOI
A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene†
Elvera Sofos,Matthew F. Pescosolido,Jose Bernardo Quintos,Dianne N. Abuelo,Shelly R. Gunn,Karine Hovanes,Eric M. Morrow,Natasha Shur +7 more
TL;DR: This three‐generation pedigree outlines features of a novel microduplication syndrome, including the ZNF214 gene, which has been postulated to play a role in Beckwith–Wiedemann syndrome.
Journal ArticleDOI
Prevalence of Café-au-Lait Spots in children with solid tumors
Anna Claudia Evangelista Dos Santos,Benjamin Heck,Beatriz de Camargo,Fernando Regla Vargas,Fernando Regla Vargas,Fernando Regla Vargas +5 more
TL;DR: The prevalence of solitary CALM was similar in both study groups (18% and 19%) and also in the group of children without cancer, and when both groups were analyzed together, the significance disappeared.
Journal ArticleDOI
Molecular and clinical characterization of patients with a ring chromosome 11.
Kerstin Hansson,Antoinet C.J. Gijsbers,Wilma Oostdijk,Jan J.B. Rehbock,Femke A. de Snoo,Claudia A. L. Ruivenkamp,Sarina G. Kant +6 more
TL;DR: Five patients are reported carrying a ring chromosome 11, with three of the patients belonging to the same family, and SNP array analysis was performed to characterize the different ring chromosomes and the clinical phenotypes were compared with previously reported patients with ring chromosomes 11.
Journal ArticleDOI
De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease.
Ying Peng,Ruiyu Ma,Yingjie Zhou,Yan Xia,Juan Wen,Yanghui Zhang,Ruolan Guo,Haoxian Li,Qian Pan,Rui Zhang,Chengyuan Tang,Desheng Liang,Lingqian Wu +12 more
TL;DR: This is the first case of non-reciprocal translocation with a terminal deletion in r (11) and these findings provide important information for genetic counseling for this family, and may improve the understanding of the genotype-phenotype correlation of ring chromosome 11 disorders.
References
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Journal ArticleDOI
Chromosome preparations of leukocytes cultured from human peripheral blood
TL;DR: A combination of cytological and leukocyte culture techniques is described which constitutes a convenient, reliable approach for chromosome studies of humans and yields the following advantages: relative ease of obtaining blood and small volume required.
Journal ArticleDOI
Relaxation Of Imprinted Genes In Human Cancer
Shirley Rainier,Laura A. Johnson,Craig J. Dobry,April Joy Ping,Paul E. Grundy,Andrew P. Feinberg +5 more
TL;DR: In contrast, 69% of Wilms' tumours not undergoing loss of heterozygosity at lip showed biallelic expression of one or both genes, suggesting that relaxation or loss of imprinting could represent a new epigenetic mutational mechanism in carcinogenesis.
Journal ArticleDOI
Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour
Osamu Ogawa,Michael R. Eccles,Jenny Szeto,Leslie A. McNoe,Kankatsu Yun,Marion A. Maw,Peter J. Smith,Anthony E. Reeve +7 more
TL;DR: The IGF2 gene is expressed from the paternal allele in human fetal tissue, but that in Wilms' tumour expression can occur biallelically, providing the first evidence that relaxation of imprinting may play a role in the onset of disease.
Journal ArticleDOI
The Beckwith-Wiedemann Syndrome: The Exomphalos-Macroglossia-Gigantism Syndrome
TL;DR: The literature on this syndrome has recently been reviewed by Filippi and McKusick and it is concluded that postnatal gigantism is a cause for concern and further research is needed to establish a causative factor.
Journal ArticleDOI
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
C Gicquel,Sylvie Rossignol,Sylvie Cabrol,Muriel Houang,Virginie Steunou,Véronique Barbu,Fabienne Danton,Nathalie Thibaud,Martine Le Merrer,Lydie Burglen,Anne-Marie Bertrand,Irène Netchine,Yves Le Bouc +12 more
TL;DR: Findings provide new insight into the pathogenesis of SRS and strongly suggest that the 11p15 imprinted region, in addition to those of 7p11.2-p13 and 7q31-qter, is involved in SRS.