Ring chromosome 1 in a newborn

Cutenese, Cindy; Mullett, Martha D.; Hummel, Marybeth; Wenger, Sharon L.

doi:10.1097/00019605-200009020-00012

Cited by 4 publications

(4 citation statements)

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“…To determine whether it is also a common disorder in other ring chromosomes, we reviewed epilepsy frequencies in a total of 403 cases with ring chromosomes including 22 autosomes and X chromosome (Fig. 3) [Palka et al, 1986;Fagan et al, 1988;MacDermot et al, 1990;Matalon et al, 1990;Freyberger et al, 1991;Calabrese et al, 1994;Migliori et al, 1994;Lurie, 1995;Flejter et al, 1996;Lanzi et al, 1996;Wahlstrom et al, 1996;Conte et al, 1997;Cutenese et al, 2000;Rodriguez et al, 2000;Tonk et al, 2000;Barajas-Barajas et al, 2001;Dee et al, 2001;Stankiewicz et al, 2001;He et al, 2002;Muroya et al, 2002;Urban et al, 2002;van Karnebeek et al, 2002;Concolino et al, 2003;Ishmael et al, 2003;Morimoto et al, 2003;Parmar et al, 2003;Shashi et al, 2003;Battini et al, 2004;Bedoyan et al, 2004;Le Caignec et al, 2004;Leppig et al, 2004;Rope et al, 2004;Tumer et al, 2004;Zhang et al, 2004;Alkuraya et al, 2005;Nishiwaki et al, 2005]. Only ring chromosomes 14, 17, and 20 are strongly associated with seizure disorders.…”

Section: Seizure Disorder and Ring Chromosomementioning

confidence: 99%

Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review

Zou

Dyke

Thorland

et al. 2006

American J of Med Genetics Pt A

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Ring chromosome 20 is a rare chromosome disorder characterized by a typical seizure phenotype consisting of complex partial seizures, frequent progression to generalized tonic or tonic-clonic seizures, and nocturnal frontal lobe seizures with frequent episodes of non-convulsive status epilepticus. Development may be normal or mildly delayed, followed by cognitive and behavioral decline after seizure onset. Here, we describe a patient with a typical severe seizure phenotype and a mosaic ring chromosome 20 without loss of p or q subtelomere regions or telomeric sequences. The ring had a longer telomere length than either of the telomere ends of its homologous chromosome 20 by quantitative fluorescence in situ hybridization analysis, suggesting that it might be derived from telomere-telomere fusion. The phenotypic comparison of this patient and other chromosome 20 cases that had terminal deletions of 20qter (n = 1) and 20pter (n = 7), shows that the epilepsy phenotype and electroencephalographic abnormalities are characteristic in patients with ring chromosome 20. Several hypotheses have been proposed to address the elusive mechanisms underlying the seizure disorder in ring chromosome 20. These possibilities include haploinsufficiency of two epilepsy genes CHRNA4 and KCNQ2 located at 20qter, silencing of these genes by a telomere position effect, or microdeletions or rearrangements of genetic material during the ring formation.

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Section: Seizure Disorder and Ring Chromosomementioning

confidence: 99%

Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review

Zou

Dyke

Thorland

et al. 2006

American J of Med Genetics Pt A

View full text Add to dashboard Cite

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“…To determine whether it is also a common disorder in other ring chromosomes, we reviewed epilepsy frequencies in a total of 403 cases with ring chromosomes including 22 autosomes and X chromosome (Fig. 3) [Palka et al, 1986; Fagan et al, 1988; MacDermot et al, 1990; Matalon et al, 1990; Freyberger et al, 1991; Calabrese et al, 1994; Migliori et al, 1994; Lurie, 1995; Flejter et al, 1996; Lanzi et al, 1996; Wahlstrom et al, 1996; Conte et al, 1997; Cutenese et al, 2000; Rodriguez et al, 2000; Tonk et al, 2000; Barajas‐Barajas et al, 2001; Dee et al, 2001; Stankiewicz et al, 2001; He et al, 2002; Muroya et al, 2002; Urban et al, 2002; van Karnebeek et al, 2002; Concolino et al, 2003; Ishmael et al, 2003; Morimoto et al, 2003; Parmar et al, 2003; Shashi et al, 2003; Battini et al, 2004; Bedoyan et al, 2004; Le Caignec et al, 2004; Leppig et al, 2004; Rope et al, 2004; Tumer et al, 2004; Zhang et al, 2004; Alkuraya et al, 2005; Nishiwaki et al, 2005]. Only ring chromosomes 14, 17, and 20 are strongly associated with seizure disorders.…”

Section: Literature Review and Discussionmentioning

confidence: 99%

Control of release characteristics in pH‐sensitive poly(vinyl alcohol)/poly(acrylic acid) microcapsules containing chemically treated alumina core

Yun

Kim

2009

J of Applied Polymer Sci

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The pH-sensitive poly(vinyl alcohol)/poly (acrylic acid) hydrogel microcapsules containing vitamin B 12 -loaded Al 2 O 3 core were prepared with a three-step emulsion polymerization. Al 2 O 3 was chemically treated with HCl or NaOH solutions at room temperature for 24 h to modify the binding properties with vitamin B 12 . The colon-targeted release characteristics of vitamin B 12 from the microcapsules were evaluated at different pHs. These microcapsules showed the faster and larger release of vitamin B 12 due to the high swelling of microcapsule shell as the pH was changed into more basic condition. However, these microcapsules showed the slower and less release of vitamin B 12 as the acid value of Al 2 O 3 increased due to the strong binding interaction between Al 2 O 3 core and vitamin B 12 even though the initial loading of vitamin B 12 was higher.

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“…It has also been suggested that larger ring structures are more labile and result in more severe growth retardation than smaller rings . While ring structures have been reported in various autosomes, only six patients with constitutional ring 1 chromosome have been reported to date . The oldest reported individual lived to be at least 12 years of age .…”

Section: Introductionmentioning

confidence: 99%

“…The oldest reported individual lived to be at least 12 years of age . Consistently overlapping features in ring 1 chromosome include: microcephaly, low birth weight with severe postnatal growth retardation and dwarfism, intellectual disability, and mild dysmorphic features . However, the paucity of reported individuals with ring 1 chromosome limits delineation of a distinct syndrome and provides few opportunities to perform additional cytogenetic investigations.…”

Section: Introductionmentioning

confidence: 99%