Literature DB >> 10051018

Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18.

C Dacou-Voutetakis1, A Sertedaki, M Maniatis-Christidis, C Sarri, G Karadima, M B Petersen, A Xaidara, M Kanariou, P Nicolaidou.   

Abstract

A 4 year 3 month old boy with insulin dependent diabetes mellitus (IDDM), autoimmune thyroiditis, slight mental retardation, facial dysmorphism, and a de novo ring chromosome 18 (deletion 18q22.3-18qter) is described. This unique association of defects could represent a chance association. Alternatively, the clinical features could be the result of the chromosomal aberration. If so, one could speculate that a gene or genes on chromosome 18 might act as a suppressor or activator of the autoimmune process by itself or in concert with other IDDM loci.

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Year:  1999        PMID: 10051018      PMCID: PMC1734302     

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  7 in total

1.  A Case of Ring Chromosome 18 with Single Umbilical Artery Detected During Prenatal Period.

Authors:  Nazan Eras
Journal:  Mol Syndromol       Date:  2020-09-10

2.  Case report of de novo dup(18p)/del(18q) and r(18) mosaicism.

Authors:  Enkhtuvshin Gereltzul; Yoshiyuki Baba; Naoto Suda; Momotoshi Shiga; Maristela Sayuri Inoue; Michiko Tsuji; Insik Shin; Yukio Hirata; Kimie Ohyama; Keiji Moriyama
Journal:  J Hum Genet       Date:  2008-08-05       Impact factor: 3.172

3.  An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.

Authors:  Altuğ Koç; Derya Kan; Kadri Karaer; Mehmet A Ergün; Meral Yirmibeş Karaoğuz; Kivilcim Gücüyener; Sophie Hinreiner; Thomas Liehr; E Ferda Perçin
Journal:  Eur J Pediatr       Date:  2007-08-01       Impact factor: 3.183

4.  Hypothyroidism and levothyroxine-responsive liver dysfunction in a patient with ring chromosome 18 syndrome.

Authors:  Kazuhiro Ohkubo; Kenji Ihara; Shouichi Ohga; Masataka Ishimura; Toshiro Hara
Journal:  Thyroid       Date:  2012-09-04       Impact factor: 6.568

Review 5.  Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature.

Authors:  Jing Wang; Ling Xiao; Junling Wang; Zijin Ding; Jie Ni; Xiaoyan Long
Journal:  Neurol Sci       Date:  2021-04-08       Impact factor: 3.307

6.  Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18.

Authors:  Eiman Bagherizadeh; Farkhondeh Behjati; Seyed Hoseinali Saberi; Yousef Shafeghati
Journal:  Indian J Hum Genet       Date:  2011-05

7.  A Rare Association of Monosomy 18p Syndrome and Polyglandular Autoimmune Syndrome Type IIIA.

Authors:  D Dolek-Cetinkaya; Mm Demirpence; A Gorgel; F Salgur; M Bahceci
Journal:  Balkan J Med Genet       Date:  2013-06       Impact factor: 0.519

  7 in total

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