Further study of genetic interactions: Loss of short arm material in patients with ring chromosome 4 changes developmental pattern of del(4)(q33)

Lurie, Iosif W.

doi:10.1002/ajmg.1320560319

Cited by 15 publications

(12 citation statements)

References 21 publications

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“…Our findings can be useful in counseling when a case of a ring chromosome is ascertained prenatally. Based on information from multiple case reports, a fetus with an incomplete ring chromosome appears to be at a high risk for congenital anomalies, growth retardation, and mental retardation [Zdansky et al, 1975;Suernick et al, 1978;Fryns et al, 1979;Inouye et al, 1979;Lurie, 1995;Lanzi et al, 1996;Rogan et al, 1996]. The clinical severity is difficult to predict as it depends on which chromosome is involved and the amount of material lost.…”

Section: Discussionmentioning

confidence: 97%

Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of ?complete ring? syndrome

et al. 1999

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The term "ring syndrome" was proposed to describe a phenotype of growth failure without major malformations due to a ring autosome. The growth failure is thought to be caused by instability of the ring chromosome leading to aneusomy and cell death. Most previous studies of ring chromosomes were based on standard cytogenetic banding techniques and were limited to microscopically detectable deletions in the ring chromosomes. We report on two patients with complete ring (4) and ring (9) chromosomes, respectively. The first was a 15-month-old girl and the second was a 16-month-old boy. They both presented with severe, symmetrical growth failure and normal psychomotor development in the absence of malformations. Their parents had a normal phenotype. The first case had a whorled pattern of hyperpigmentation and hypopigmentation on part of the face and chest, and the second case had a patchy hyperpigmented rash on the trunk. Peripheral blood karyotype of the first patient was 46,XX, r(4)(p16.3q35.2) and of the second 45,XY,-9/46,XY,r(9)(p24q34.3). G-band analysis suggested no loss of material in the ring chromosomes. These findings were confirmed by fluorescence in situ hybridization (FISH) analysis using chromosome-specific subtelomeric probes. The common human telomeric sequences were intact in the first patient but absent in the second patient. The cytogenetic and FISH data in our two cases provide further evidence for the existence of a "complete ring" phenotype independent of the autosome involved. Pigmentary skin changes are a useful clinical sign of mosaicism caused by the ring instability.

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Section: Discussionmentioning

confidence: 97%

Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of ?complete ring? syndrome

et al. 1999

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“…Although some cases with ring 4 might have mild dysmorphic features [Freyberger et al, 1991], some of them had Potter sequence [Fryns et al, 1988] or were called Seckel syndrome with oligomeganephronia [Anderson et al, 1997]. Several patients with del(4q) and r(4) were found to have limb deficiency [Lurie, 1995;Hou and Wang, 1996]. Some cases of ring chromosome 4 had features of WHS [Perez-Castillo and Abrisqueta, 1977;Del Mazo et al, 1978;Kosztolányi, 1985;Belitz et al, 1991].…”

Section: Clinical Reportmentioning

confidence: 97%

Ring chromosome 4 and Wolf–Hirschhorn syndrome (WHS) in a child with multiple anomalies

Balcí

Engiz

Aktaş

et al. 2006

American J of Med Genetics Pt A

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We report on a 16-month-old male patient with ring chromosome 4 and deletion of Wolf-Hirschhorn syndrome (WHS) region with multiple congenital anomalies including unilateral cleft lip and palate, iris coloboma, microcephaly, midgut malrotation, hypospadias, and double urethral orifices. Peripheral chromosome analysis of the patient showed 46,XY,r(4)(p16.3q35) de novo. Multicolor fluorescence in situ hybridization (FISH) study was also performed and according to multicolor banding (MCB) a r(4)(::p16.3 --> q34.3 approximately 35.1::) was found in all metaphases. Subtelomeric 4p region, subtelomeric 4q region, as well as, Wolf-Hirschhorn critical region were deleted in ring chromosome 4. Genomic microarray analysis was also performed to delineate the size of deletion. Cranial magnetic resonance imaging (MRI) showed hypoplastic corpus callosum, delayed myelinization, and frontal and occipital lobe atrophies. Both maternal and paternal chromosomal analyses were normal. We compare the phenotypic appearance of our patient with the previously reported 16 cases of ring chromosome 4 in the medical literature.

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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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Further study of genetic interactions: Loss of short arm material in patients with ring chromosome 4 changes developmental pattern of del(4)(q33)

Cited by 15 publications

References 21 publications

Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of ?complete ring? syndrome

Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of ?complete ring? syndrome

Ring chromosome 4 and Wolf–Hirschhorn syndrome (WHS) in a child with multiple anomalies

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

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