Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication

Lois J. Starr; Jennifer N. Sanmann; Ann Haskins Olney; Melissa Wandoloski; Warren G. Sanger; Donald W. Coulter

doi:10.1002/ajmg.a.36432

Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication

Lois J. Starr, Jennifer N. Sanmann, Ann Haskins Olney, Melissa Wandoloski, Warren G. Sanger, Donald W. Coulter

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

Abstract

Duplications of the long arm of chromosome 18 have been previously reported in patients with phenotypic findings similar to full trisomy 18. Trisomy 18 increases the risk for Wilms tumor and it is currently recommended that these patients undergo abdominal ultrasonography screening every 6 months. We report on nephroblastomatosis in a 27-month-old male with a 55Mb duplication of chromosome 18q11.2-q23 (chr18:22693370-77982126, hg 19) and propose that the trisomy 18 tumor screening protocol could also benefit patients with large 18q duplications.

Original language	English (US)
Pages (from-to)	1079-1082
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	164
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.a.36432
State	Published - Apr 2014

Keywords

18q duplication
Nephroblastomatosis
Partial trisomy 18
Trisomy 18
Wilms tumor

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.36432

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title = "Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication",

abstract = "Duplications of the long arm of chromosome 18 have been previously reported in patients with phenotypic findings similar to full trisomy 18. Trisomy 18 increases the risk for Wilms tumor and it is currently recommended that these patients undergo abdominal ultrasonography screening every 6 months. We report on nephroblastomatosis in a 27-month-old male with a 55Mb duplication of chromosome 18q11.2-q23 (chr18:22693370-77982126, hg 19) and propose that the trisomy 18 tumor screening protocol could also benefit patients with large 18q duplications.",

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T1 - Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication

AU - Starr, Lois J.

AU - Sanmann, Jennifer N.

AU - Olney, Ann Haskins

AU - Wandoloski, Melissa

AU - Sanger, Warren G.

AU - Coulter, Donald W.

PY - 2014/4

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AB - Duplications of the long arm of chromosome 18 have been previously reported in patients with phenotypic findings similar to full trisomy 18. Trisomy 18 increases the risk for Wilms tumor and it is currently recommended that these patients undergo abdominal ultrasonography screening every 6 months. We report on nephroblastomatosis in a 27-month-old male with a 55Mb duplication of chromosome 18q11.2-q23 (chr18:22693370-77982126, hg 19) and propose that the trisomy 18 tumor screening protocol could also benefit patients with large 18q duplications.

KW - 18q duplication

KW - Nephroblastomatosis

KW - Partial trisomy 18

KW - Trisomy 18

KW - Wilms tumor

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Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication

Abstract

Keywords

ASJC Scopus subject areas

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