First familial case of ring chromosome 18 and monosomy 18 mosaicism

2001 ◽  
Vol 104 (3) ◽  
pp. 257-259 ◽  
Author(s):  
Catherine Yardin ◽  
Fran�oise Esclaire ◽  
Faraj Terro ◽  
Marie-Claire Baclet ◽  
Dominique Barthe ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Familial Case ◽  
Chromosome 18 ◽  
Ring Chromosome 18

A case of ring chromosome 18 syndrome treated with a combined orthodontic-prosthodontic approach

2009 ◽  
pp. 091202121239062
Author(s):  
Takashi Ono ◽  
Mizue Okuma ◽  
Takashi Hamada ◽  
Nobuyoshi Motohashi ◽  
Keiji Moriyama
Keyword(s):  
Ring Chromosome ◽  
Chromosome 18 ◽  
Ring Chromosome 18

Varying Manifestations of Ring Chromosome 18

2016 ◽  
Vol 5 (2) ◽  
pp. 51-55
Author(s):  
Das Partha S. ◽  
◽  
Madon Prochi F. ◽  
Athalye Arundhati S. ◽  
Parikh Firuza R. ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 18 ◽  
Ring Chromosome 18

Ring chromosome 18 in a mother and son

1986 ◽  
Vol 24 (1) ◽  
pp. 171-174 ◽  
Author(s):  
Michael A. Donlan ◽  
Cynthia R. Dolan ◽  
John M. Opitz ◽  
James F. Reynolds
Keyword(s):  
Ring Chromosome ◽  
Chromosome 18 ◽  
Ring Chromosome 18

RING CHROMOSOME 18 AND GAMMA-M-GLOBULIN ABNORMALITY

The Lancet ◽  
1969 ◽  
Vol 294 (7618) ◽  
pp. 497-498 ◽  
Author(s):  
Knud Jensen ◽  
Kirsten Riber Christensen ◽  
Petrea Tacobsen ◽  
Johannes Nielsen ◽  
Ursula Friedrich ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 18 ◽  
Ring Chromosome 18

scholarly journals Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18

F1000Research ◽  
2018 ◽  
Vol 6 ◽  
pp. 1940 ◽  
Author(s):  
Alanna Chau ◽  
KH Ramesh ◽  
Anand D Jagannath ◽  
Shitij Arora
Keyword(s):  
Rheumatoid Arthritis ◽  
Interstitial Lung Disease ◽  
Autoimmune Disease ◽  
Late Onset ◽  
Ring Chromosome ◽  
Iga Deficiency ◽  
Chromosome 18 ◽  
First Case ◽  
Variable Phenotype ◽  
Ring Chromosome 18

Ring chromosome 18 has a highly variable phenotype, depending on the extent of distal arm deletions. It is most commonly presented as a combination of 18p- and distal 18q- syndrome. IgA deficiency and autoimmune diseases have been previously described in these patients. Seven cases of juvenile rheumatoid arthritis (JRA) have been reported. Here we report the first case of late onset rheumatoid arthritis (RA) in a 32 year old Dominican woman with hypothyroidism, vitiligo, IgA deficiency, interstitial lung disease (ILD), cystic bronchiectasis, and features consistent with ringed 18, 18p- and distal 18q syndrome.  The multiple autoimmune findings in our patient lends further support to the idea of loci on chromosome 18 playing a role in autoimmune disease expression. Late onset RA and ILD in a patient with chromosome 18 abnormalities are novel findings and are additional conditions to be aware of in this population.

Single-Nucleotide Polymorphism Array-Based Characterization of Ring Chromosome 18

2013 ◽  
Vol 163 (4) ◽  
pp. 1174-1178.e3 ◽  
Author(s):  
Ana Spreiz ◽  
Roberta S. Guilherme ◽  
Claudio Castellan ◽  
Andrew Green ◽  
Olaf Rittinger ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Single Nucleotide Polymorphism Array ◽  
Ring Chromosome ◽  
Nucleotide Polymorphism ◽  
Chromosome 18 ◽  
Single Nucleotide ◽  
Ring Chromosome 18

A Female with Ring chromosome 18

1979 ◽  
Vol 21 (1) ◽  
pp. 42-42
Author(s):  
Ryuichi Tsukino ◽  
Machiko Hiroto ◽  
Eikichi Miyashiro ◽  
Nobuhiko lenaga ◽  
Teijiro Riko ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 18 ◽  
Ring Chromosome 18

scholarly journals Hypothyroidism and Levothyroxine-Responsive Liver Dysfunction in a Patient with Ring Chromosome 18 Syndrome

Thyroid ◽  
2012 ◽  
Vol 22 (10) ◽  
pp. 1080-1083 ◽  
Author(s):  
Kazuhiro Ohkubo ◽  
Kenji Ihara ◽  
Shouichi Ohga ◽  
Masataka Ishimura ◽  
Toshiro Hara
Keyword(s):  
Liver Dysfunction ◽  
Ring Chromosome ◽  
Chromosome 18 ◽  
Ring Chromosome 18
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