Ring chromosome 14 and immunoglobulin locus

Krawczun, Michael S.; Melink, Georgiann B.; Cervenka, J; Opitz, John M.

doi:10.1002/ajmg.1320170209

Cited by 6 publications

(3 citation statements)

References 11 publications

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“… 1) Abe et al [1978]; 2) Schmidt et al [1981]; 3) Vekemans et al [1978]; 4,5,6) Riley et al [1980]; 7) Fryns et al [1983]; 8) Fryns et al [1982]; 9) Portoian‐Shuhaiber et al [1986]; 10) HCDB; 11) Raoul et al [1984]; 12,13) Ieshima et al [1983]; 14) Amarose et al [1980]; 15) Zelante et al [1991]; 16) Torricelli and Giovannucci [1978]; 17) Triolo et al [1981]; 18) Ono et al [1999]; 19) Howard et al [1988]; 20) Shirasaka et al [1992]; 21) Krawczun et al [1984]; 22,23) Kristensen et al [1992]. …”

Section: Methods and Resultsunclassified

Further delineation of the chromosome 14q terminal deletion syndrome

et al. 2002

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A patient with hypotonia, blepharophimosis, ptosis, a bulbous nose, a long philtrum, upturned corners of the mouth, and mild developmental delay was found to have a small subtelomeric deletion of the long arm of chromosome 14 (q32.31-qter). In comparing her phenotype with previously reported patients with similar 14q deletions, due to either a linear deletion or to a ring chromosome 14, a clinically recognizable terminal 14q microdeletion syndrome was evident. Due to the limited number of cases reported, it was not possible to assign specific features to specific regions of terminal 14q. The comparison of features in cases with a linear deletion of 14qter (n = 19) to those in cases with a deletion due to a ring chromosome 14 (n = 23), both with the same breakpoint in 14q, showed that seizures and retinitis pigmentosa have been found only in patients with ring chromosomes. Several hypotheses are put forward to explain this difference: mitotic instability of ring chromosomes; a telomere position effect in ring chromosomes in which the 14p telomere silences nearby gene(s) on the q-arm; and dose-dependent gene(s) involved in seizures and retinitis pigmentosa located on the short arm of chromosome 14. In our opinion, only seizures may be explained by the mitotic instability of ring chromosomes, while both seizures and retinitis pigmentosa may be explained by silencing of gene(s) on 14q by the 14p telomere; the third hypothesis seems unlikely to explain either symptom.

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Section: Methods and Resultsunclassified

Further delineation of the chromosome 14q terminal deletion syndrome

et al. 2002

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“…Only some individuals with Ring14 have altered immunological and/or antibody profile [37]. The severity of these infectious episodes is variable, spanning from recurrent upper airways infections to severe pneumonia.…”

Section: Resultsmentioning

confidence: 99%

“…A susceptibility to infections was also observed in patients with linear deletions, suggesting that the phenomenon is due primarily to haploinsufficiency as the distal region of 14q contains the genes for heavy chains of antibodies [21, 37]. Only some individuals with r(14) syndrome have altered immunological and/or antibody profile.…”

Section: Symptoms and Major Complicationsmentioning

confidence: 99%

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

Rinaldi

Vaisfeld

Amarri

et al. 2017

Orphanet J Rare Dis

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BackgroundRing chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues.ResultsThe aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years subjects affected by ring chromosome 14 syndrome. The literature search was performed in 2016. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus.ConclusionConventional cytogenetics is the primary tool to identify a ring chromosome. Children with a terminal deletion of chromosome 14q ascertained by molecular karyotyping (CGH/SNP array) should be tested secondarily by conventional cytogenetics for the presence of a ring chromosome. Early diagnosis should be pursued in order to provide medical and social assistance by a multidisciplinary team. Clinical investigations, including neurophysiology for epilepsy, should be performed at the diagnosis and within the follow-up. Following the diagnosis, patients and relatives/caregivers should receive regular care for health and social issues. Epilepsy should be treated from the onset with anticonvulsive therapy. Likewise, feeding difficulties should be treated according to need. Nutritional assessment is recommended for all patients and nutritional support for malnourishment can include gastrostomy feeding in selected cases. Presence of autistic traits should be carefully evaluated. Many patients with ring chromosome 14 syndrome are nonverbal and thus maintaining their ability to communicate is always essential; every effort should be made to preserve their autonomy.

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Transmission of ring 14 chromosome from mother to two sons

et al. 1990

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We report on a family with transmission of a ring chromosome 14 from an affected mother to her 2 sons. The mother was mosaic, 46,XX,r(14)/45,XX,t(14q21q). Both of her sons, affected by seizures and mental retardation, have the karyotype 46,XY,r(14). In considering the association of translocation 14:21 in the mother with ring 14, we postulate that either the ring chromosome was formed first and then opened with translocation of the partially deleted chromosome 14 to chromosome 21, or the 14:21 translocation was present first, then the chromosomes 14 and 21 broke apart, and the partially deleted 14 formed the ring. The published literature of cases of ring 14 is reviewed.

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Ring chromosome 14 and immunoglobulin locus

Cited by 6 publications

References 11 publications

Further delineation of the chromosome 14q terminal deletion syndrome

Further delineation of the chromosome 14q terminal deletion syndrome

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

Transmission of ring 14 chromosome from mother to two sons

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