| Kabuki syndrome and cancer in two patients. | |
| | |
MedLine Citation:
|
PMID: 20503331 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Both hepatoblastoma and neuroblastoma are occasionally associated with congenital syndromes such as Beckwith-Wiedemann syndrome and trisomy 18. There have been no reports of hepatoblastoma in patients with Kabuki syndrome, whereas one patient with neuroblastoma and this syndrome has been reported. In this paper we present two patients with Kabuki syndrome and a neoplasm: a child of 6 years with hepatoblastoma and an infant, of 6 months affected by neuroblastoma. |
| | |
Authors:
|
Manuela Tumino; Maria Licciardello; Giovanni Sorge; Maria Concetta Cutrupi; Fabrizio Di Benedetto; Loredana Amoroso; Roberta Catania; Monica Pennisi; Salvatore D'Amico; Andrea Di Cataldo |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Jun |
Date Detail:
|
Created Date: 2010-05-26 Completed Date: 2010-08-30 Revised Date: 2011-07-11 |
Medline Journal Info:
|
Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
|
Languages: eng Pagination: 1536-9 Citation Subset: IM |
Copyright Information:
|
(c) 2010 Wiley-Liss, Inc. |
Affiliation:
|
Unit of Pediatric Hematology/Oncology, Department of Pediatrics, University of Catania, Catania, Italy. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
diagnosis*,
genetics Adrenal Gland Neoplasms / diagnosis*, genetics, radiography Child Facies* Female Hepatoblastoma / diagnosis*, genetics Humans Infant Liver Neoplasms / diagnosis*, genetics Male Mental Retardation / diagnosis*, genetics Neuroblastoma / diagnosis*, genetics, radiography Syndrome |
| Comments/Corrections | |
Comment In:
|
Am J Med Genet A. 2011 Jun;155A(6):1504
[PMID:
21548020
]
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery.
Next Document: Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation...