Rheumatoid arthritis in an adult patient with mosaic distal18q-, 18p- and 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 distal18q- 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 distal18q syndrome. The multiple autoimmune findings in our patient lends further support to the idea of loci
Otologic characteristics of individuals with deletions of distal18q. To fully describe the otologic features seen in individuals with deletions of the distal long arm of chromosome 18 (distal18q-). Cross-sectional/observational. More than 200 individuals with deletions of the long arm of chromosome 18 underwent a complete otologic and audiologic examination. In addition, chromosome microarray individuals with distal18q-. External auditory canal stenosis without microtia is a hallmark of the disease. Hearing impairment is also very common, with both sensorineural losses and conductive losses contributing to morbidity. Moreover, the critical region for sensorineural hearing loss will aid in the identification of the gene responsible for this aspect of the distal18q- phenotype. 4.
Establishing a reference group for distal18q-: Clinical description and molecular basis Although constitutional chromosome abnormalities have been recognized since the 1960s, clinical characterization and development of treatment options have been hampered by their obvious genetic complexity and relative rarity. Additionally, deletions of 18q are particularly heterogeneous, with no two people having the same breakpoints. We identified 16 individuals with deletions that, despite unique breakpoints, encompass the same set of genes within a 17.6-Mb region. This group represents the most genotypically similar group yet identified with distal18q deletions. As the deletion is of average size when compared with other 18q deletions, this group can serve as a reference point for the clinical
of abnormal migration, differentiation, and survival of these neurons. Furthermore, the loss of ITCs in mouse mutants correlates well with defects in fear extinction as well as the appearance of depression-like and abnormal social interaction behaviors reminiscent of depressive disorders observed in human patients with distal18q deletions, including the locus.
to aspiration-related complications. Hemizygosity for TCF4 confers a significant impact primarily with regard to cognitive and motor development, resulting in a very different prognosis for individuals hemizygous for TCF4 when compared to individuals hemizygous for other regions of distal18q.