Literature DB >> 10797433

Embryonal rhabdomyosarcoma and chromosomal breakage in a newborn infant with possible Dubowitz syndrome.

A R Al-Nemri1, R A Kilani, M A Salih, A A Al-Ajlan.   

Abstract

We report on a newborn girl with Dubowitz syndrome (DS) and embryonal rhabdomyosarcoma (ERMS), with multiple chromosomal breakage (MCB). The tumor was resected but recurred in a few months, resulting in the infant's death. Malignancy and chromosomal breakage have been reported previously in DS. However, ERMS has not been reported among the malignant tumors diagnosed in DS. To our knowledge, concurrence of DS, ERMS, and MCB has not been reported previously. This is the first observation of DS in the Arab ethnic group. Copyright 2000 Wiley-Liss, Inc.

Entities:  

Mesh:

Year:  2000        PMID: 10797433     DOI: 10.1002/(sici)1096-8628(20000515)92:2<107::aid-ajmg5>3.0.co;2-l

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  7 in total

1.  PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature.

Authors:  Kaylee Park; Laurie E Seltzer; Emily Tuttle; Ghayda M Mirzaa; Alex R Paciorkowski
Journal:  Am J Med Genet A       Date:  2017-05-02       Impact factor: 2.802

Review 2.  Clinical manifestations of genetic instability overlap one another.

Authors:  Károly Méhes; György Kosztolányi
Journal:  Pathol Oncol Res       Date:  2004-03-18       Impact factor: 3.201

3.  Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report.

Authors:  Andrea Ballini; Stefania Cantore; Domenica Tullo; Apollonia Desiate
Journal:  J Med Case Rep       Date:  2011-01-27

4.  Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features.

Authors:  Rebekah S Huber; Daniel Houlihan; Kevin Filter
Journal:  J Clin Med Res       Date:  2011-07-26

5.  Dubowitz syndrome: common findings and peculiar urine odor.

Authors:  Cynthia Chehade; Johnny Awwad; Nadine Yazbeck; Marianne Majdalani; Rima Wakim; Hala Tfayli; Chantal Farra
Journal:  Appl Clin Genet       Date:  2013-10-08

6.  Identification of the DNA repair defects in a case of Dubowitz syndrome.

Authors:  Jingyin Yue; Huimei Lu; Shijie Lan; Jingmei Liu; Mark N Stein; Bruce G Haffty; Zhiyuan Shen
Journal:  PLoS One       Date:  2013-01-25       Impact factor: 3.240

7.  Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.

Authors:  Fernando Jose Martinez; Jeong Ho Lee; Ji Eun Lee; Sandra Blanco; Elizabeth Nickerson; Stacey Gabriel; Michaela Frye; Lihadh Al-Gazali; Joseph G Gleeson
Journal:  J Med Genet       Date:  2012-05-10       Impact factor: 6.318

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.