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 4.8Mb 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.
| Original language | English |
|---|---|
| Pages (from-to) | 1756-1763 |
| Number of pages | 8 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 152 |
| Issue number | 7 |
| DOIs | |
| Publication status | Published - 2010 |
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Keywords
- 11p15 duplication
- Ring chromosome 11
- SNPs array
- Wilms tumor
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
- Medicine(all)
Cite this
Constitutional ring chromosome 11 Mosaicism in a Wilms tumor patient : Cytogenetic, molecular and clinico-pathological studies. / Carella, Massimo; Spreafico, Filippo; Palumbo, Orazio; Storlazzi, Clelia Tiziana; Tabano, Silvia; Miozzo, Monica; Miglionico, Lucia; Calvano, Savino; Sindici, Giulia; Gamba, Beatrice; Impera, Luciana; Collini, Paola; Zelante, Leopoldo; Radice, Paolo; Perotti, Daniela.
In: American Journal of Medical Genetics, Part A, Vol. 152, No. 7, 2010, p. 1756-1763.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Constitutional ring chromosome 11 Mosaicism in a Wilms tumor patient
T2 - Cytogenetic, molecular and clinico-pathological studies
AU - Carella, Massimo
AU - Spreafico, Filippo
AU - Palumbo, Orazio
AU - Storlazzi, Clelia Tiziana
AU - Tabano, Silvia
AU - Miozzo, Monica
AU - Miglionico, Lucia
AU - Calvano, Savino
AU - Sindici, Giulia
AU - Gamba, Beatrice
AU - Impera, Luciana
AU - Collini, Paola
AU - Zelante, Leopoldo
AU - Radice, Paolo
AU - Perotti, Daniela
PY - 2010
Y1 - 2010
N2 - 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 4.8Mb 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.
AB - 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 4.8Mb 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.
KW - 11p15 duplication
KW - Ring chromosome 11
KW - SNPs array
KW - Wilms tumor
UR - http://www.scopus.com/inward/record.url?scp=77954121026&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77954121026&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.33420
DO - 10.1002/ajmg.a.33420
M3 - Article
C2 - 20583153
AN - SCOPUS:77954121026
VL - 152
SP - 1756
EP - 1763
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 7
ER -