Graves disease in a patient with the del(18p) syndrome

Jones, Kenneth L.; Carey, Dennis E.; Opitz, John M.

doi:10.1002/ajmg.1320110410

Cited by 7 publications

(7 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although the abnormalities in our case are severe, they are typical for the 18psyndrome. Cases with variable short arm deletions of chromosome 18 (Dolan et al 1981, Jones & Carey 1982, Schinzel 1984, Zumel et al 1989, including even proximal parts of the long arm (Schmidt & Passarge 1981), exhibiting all the clinical features of the 18psyndrome have been reported.…”

Section: Discussionmentioning

confidence: 99%

A retrospective CISS hybridization analysis of a case with de novo translocation t(18;22) resulting in an 18p-syndrome*

Voiculescu¹,

Toder²,

Back³

et al. 2008

Clinical Genetics

View full text Add to dashboard Cite

Voiculescu I, Toder R, Back E, Osswald P, Schempp W. A retrospective CISS hybridization analysis of a case with de novo translocation t(18;22) resulting in an 18p—syndrome. Clin Genet 1993: 43: 318–320. © Munksgaard, 1993 An unbalanced de novo translocation t(18;22) leading to a severely malformed liveborn girl with 18p—syndrome is described. Using the chromosomal in situ suppression (CISS) hybridization technique on 4‐year‐old G‐banded chromosome preparations, it could be demonstrated that the translocation chromosome is composed of the long arm including the centromere of a chromosome 22 and the long arm of a chromosome 18. Consequently, the patient described here has lost the short arm including the centromere of chromosome 18. The possibility of restudying cytogen‐etically unsolved cases in clinical cytogenetics using older G‐banded chromosome preparations with the fluorescence in situ hybridization techniques is pointed out.

show abstract

Section: Discussionmentioning

confidence: 99%

A retrospective CISS hybridization analysis of a case with de novo translocation t(18;22) resulting in an 18p-syndrome*

Voiculescu¹,

Toder²,

Back³

et al. 2008

Clinical Genetics

View full text Add to dashboard Cite

show abstract

“…However, it is important to note that much of the clinical and molecular characterization of this condition occurred before the widespread use of microarray analysis. Many of the early case reports that form the basis of the phenotypic description did not report breakpoints [Leisti et al, ; Jacobsen and Mikkelsen, ; Jones and Carey, ]. In addition, when breakpoints were reported, they varied significantly and are less precise than breakpoints defined by microarray [Fryns et al, ; Kanjilal et al, ].…”

Section: Introductionmentioning

confidence: 99%

Whole arm deletions of 18p: Medical and developmental effects

Sebold

Soileau

Heard

et al. 2015

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Deletions of the short arm of chromosome 18 have been well-described in case reports. However, the utility of these descriptions in clinical practice is limited by varied and imprecise breakpoints. As we work to establish genotype-phenotype correlations for 18p-, it is critical to have accurate and complete clinical descriptions of individuals with differing breakpoints. In addition, the developmental profile of 18p- has not been well-delineated. We undertook a thorough review of the medical histories of 31 individuals with 18p- and a breakpoint in the centromeric region. We collected developmental data using mailed surveys and questionnaires. The most common findings included neonatal complications; cardiac anomalies; hypotonia; MRI abnormalities; endocrine dysfunction; strabismus; ptosis; and refractive errors. Less common features included holoprosencephaly and its microforms; hearing loss; and orthopedic anomalies. The developmental effects of the deletion appear to be less severe than reported in the literature, as average IQ scores were in the range of borderline intellectual functioning. Based on responses to standardized questionnaires, it appears this population has marked difficulty with activities of daily living, though several young adults were able to live independent of their parents. This manuscript represents the most comprehensive description of a cohort of 18p- individuals with identical breakpoints. Despite identical breakpoints, a great deal of phenotype variability remained among this population, suggesting that many of the genes on 18p- cause low-penetrance phenotypes when present in a hemizygous state. Future efforts will focus on the clinical description of individuals with more distal breakpoints and the identification of critical regions and candidate genes.

show abstract

“…There have been six patients with 18p-syndrome associated with hypothyroidism (Biihler et al, 1964;Ruvalcava, 1970;Malpuech et aI., 1971;Kistenmacher et al, 1973;Hasen and Bartalos, 1975;Gluckman, 1977), one 18p-patient with Graves disease (Jones and Carey, 1982), one 18q-patient with hypothyroidim (Faed et al, 1972), and one r(18) patient with hypothyroidism (Winter et al, 1972). Hypothyroidism in three of these six patients with 18p-, as in our four patients, had been attributed to autoimmune thyroiditis.…”

Section: Discussionmentioning

confidence: 52%

“…Susceptibility to thyroid diseases in a patient with an abnormality of chromosome 18, especially with 18p-syndrome, has been repeatedly reported (Biihler et al, 1964;Ruvalcava, 1970;Malpuech et al, t971;Faed et al, 1972;Kistenmacher et al, 1973;Hasen and Bartalos, 1975;Gluckman, 1977;Jones and Carey, 1982). Among the chromosome 18 abnormalities, ring chromosome 18 [r(18)] syndrome is relatively rare, and there has been only a patient in which both r(18) syndrome and hypothyroidism were observed (Winter et al, 1972).…”

Section: Introductionmentioning

confidence: 99%

Predisposition to autoimmune thyroiditis in ring chromosome 18 syndrome

et al. 1984

View full text Add to dashboard Cite

SummaryThyroid function was studied in five patients with ring chromosome 18 [r(18)] syndrome and in their mothers. Three of the five patients were clinically or subclinically hypothyroid and had an elevated anti-thyroid antibody (ATA) titer. Another patient had a goiter with the histology showing Hashimoto's thyroiditis. Two mothers of the five patients had an elevated ATA titer, one of whom was subclinically hypothyroid. Our findings indicate that autoimmune thyroiditis may occur with high frequency among patients with r(18) syndrome and their mothers. Thus thyroid function tests are always recommended in patients with the syndrome and their mothers.

show abstract

Graves disease in a patient with the del(18p) syndrome

Cited by 7 publications

References 11 publications

A retrospective CISS hybridization analysis of a case with de novo translocation t(18;22) resulting in an 18p-syndrome*

A retrospective CISS hybridization analysis of a case with de novo translocation t(18;22) resulting in an 18p-syndrome*

Whole arm deletions of 18p: Medical and developmental effects

Predisposition to autoimmune thyroiditis in ring chromosome 18 syndrome

Contact Info

Product

Resources

About