A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for ?ring chromosome 2 syndrome?

Alkuraya, Fowzan S.; Kimonis, Virginia; Holt, Laura; Murata-Collins, Joyce

doi:10.1002/ajmg.a.30437

Cited by 10 publications

(9 citation statements)

References 14 publications

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“…1F). In addition, hypoplasia of the aortic arch and isthmus and suggestive dysmorphism was noted in a patient with a recombinant chromosome 2 involving a subtelomeric 2q deletion [Alkuraya et al, 2005] and in a patient with a familial rearrangement of chromosomes 2 and 5 involving a breakpoint at 2q37, who was not evaluated cytogenetically [Joly et al, 2001]. Hence, aortic arch hypoplasia or coarctation appears to occur in a disproportionately high percentage of children with deletion in this region.…”

Section: Major Malformationmentioning

confidence: 88%

Chromosome 2q37 deletion: Clinical and molecular aspects

Falk

Casas

2007

American J of Med Genetics Pt C

111

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Terminal deletions of chromosome 2 with breakpoints at or within band 2q37, ranging from visible abnormalities to cryptic, subtelomeric deletions, have been recognized with increasing frequency among children with mild-moderate mental retardation, characteristic facial appearance, and behavioral manifestations which often place them on the autism spectrum. The stereotypic facial characteristics include prominent forehead, thin, highly arched eyebrows, depressed nasal bridge, full cheeks, deficient nasal alae and prominent columella, thin upper lip, and various minor anomalies of the pinnae. Abnormal nipples, including inverted nipples, have been reported in a number of cases. CNS, ocular, cardiac, gastrointestinal, renal, and other GU anomalies have been noted in nearly one-third of patients. Of note, coarctation or hypoplasia of the aorta has been described in several affected children. Wilms tumor, renal dysplasia, and tracheomalacia have been reported only with the most proximal breakpoint at band 2q37.1 while a range of GI anomalies, pyloric stenosis, and diaphragmatic defects have been reported with breakpoints throughout the region. A subset of patients with the most distal deletion present phenotypic features which mimic Albright hereditary osteodystrophy (AHO). In addition to the AHO-like phenotype, later onset findings include seizures and cystic kidneys. Timely diagnosis of this recognizable syndrome provides a basis for genetic counseling, appropriate surveillance, and intervention, and avoids unnecessary and expensive diagnostic testing.

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Section: Major Malformationmentioning

confidence: 88%

Chromosome 2q37 deletion: Clinical and molecular aspects

Falk

Casas

2007

American J of Med Genetics Pt C

111

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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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“…A few patients have also been reported to present with scoliosis and osteoporosis [Reddy et al, 1999;Aldred et al, 2004], as seen in our patient. Congenital heart malformations have been reported more frequently in patients with ring chromosome 2 compared to 2q37 deletion patients [Alkuraya et al, 2005]. Our patient has no congenital heart defect.…”

Section: Discussionmentioning

confidence: 74%

“…Including the present study, only 18 patients have been reported with a ring chromosome 2 [Garau et al, 1973;Sutherland and Carter, 1978;Maraschio et al, 1979;Vigfusson et al, 1980;Côté et al, 1981;Jansen et al, 1982;Wyandt et al, 1982;Lacassie et al, 1999;Ostroverkhova et al, 1999;Dee et al, 2001;Giardino et al, 2002;Alkuraya et al, 2005;Kosho et al, 2005;Rivera-Angles et al, 2010;Chen et al, 2012Chen et al, , 2013López-Uriarte et al, 2013]. Most of these cases describe a large ring chromosome 2 with partial terminal deletion either of both arms [Marashio et al, 1979;Sutherland and Carter, 1978;Vigfusson et al, 1980;Jansen et al, 1982;Wyandt et al, 1982;Lacassie et al, 1999;Dee et al, 2001;Rivera-Angles et al, 2010;Chen et al, 2013;López-Uriarte et al, 2013], or of only the q arm [Maraschio et al, 1979;Alkuraya et al, 2005].…”

Section: Discussionmentioning

confidence: 99%

“…Only 18 cases have been described so far, including 14 large rings replacing a normal chromosome 2 [Garau et al, 1973;Sutherland and Carter, 1978;Maraschio et al, 1979;Vigfusson et al, 1980;Côté et al, 1981;Jansen et al, 1982;Wyandt et al, 1982;Lacassie et al, 1999;Dee et al, 2001;Alkuraya et al, 2005;Kosho et al, 2005;Rivera-Angles et al, 2010;Chen et al, 2013;López-Uriarte et al, 2013], 3 cases with 2 normal chromosomes 2 and an additional small ring chromosome 2 [Ostroverkhova et al, 1999;Giardino et al, 2002;Chen et al, 2012], and 1 ring involving chromosomes 2 and 6 [Maraschio et al, 1979].…”

mentioning

confidence: 99%

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35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome

Sarri

Douzgou

Kontos

et al. 2015

Cytogenet Genome Res

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Côté et al. [1981] suggested that ring chromosomes with or without deletions share a common pattern of phenotypic anomalies, regardless of which chromosome is involved. The phenotype of this ‘general ring syndrome' consists of growth failure without malformations, few or no minor anomalies, and mild to moderate mental retardation. We reconsidered the ring chromosome 2 case previously published by Côté et al. [1981], and we characterized it by array CGH, polymorphic markers as well as subtelomere MLPA and FISH analysis. A terminal deletion (q37.3qter) of maternal origin of the long arm of the ring chromosome 2 was detected and confirmed by all the above-mentioned methods. Ring chromosome 2 cases are exceedingly rare. Only 18 cases, including the present one, have been published so far, and our patient is the longest reported survivor, with a 35-year follow-up, and the third case characterized by array-CGH analysis.

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A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for ?ring chromosome 2 syndrome?

Cited by 10 publications

References 14 publications

Chromosome 2q37 deletion: Clinical and molecular aspects

Chromosome 2q37 deletion: Clinical and molecular aspects

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

35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome

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