scholarly journals A case report of ring chromosome 18 with tetralogy of fallot

2019 ◽  
Vol 9 (3) ◽  
pp. 351-353
Author(s):  
Sajjadian Negar*, Herman Moghadam Kambiz
Keyword(s):  
Case Report ◽  
Tetralogy Of Fallot ◽  
Ring Chromosome ◽  
Banding Technique ◽  
Healthcare Team ◽  
Chromosome 18 ◽  
Chromosomal Disorder ◽  
Associated Symptoms ◽  
Physical Features ◽  
Ring Chromosome 18

Background: Ring Chromosome 18 is a rare chromosomal disorder with loss of geneticmaterial from one or both ends of the 18th chromosome and fusion of the chromosomalends to form a ring. Associated symptoms and physical features may beextremely variable.Case report: we observed a 2.5 year old girl with the features typical for r(18)carriers additionally manifested a Tetralogy of fallot. Chromosomal analysis on thebasis of G-banding technique was performed. Chromosomal investigation appeared as46, XY,r(18) (p11.31q22.3).Conclusion: This information may help healthcare team make diagnosis a personwith ring 18.

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

2021 ◽  
Author(s):  
Jing Wang ◽  
Ling Xiao ◽  
Junling Wang ◽  
Zijin Ding ◽  
Jie Ni ◽  
...  
Keyword(s):  
Case Report ◽  
Ring Chromosome ◽  
Chinese Child ◽  
Review Of The Literature ◽  
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.

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