Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q.

Brandt, Carsten A.; Hertz, Jens Michael; Petersen, Michael B.; Vogel, Friedrich; Noer, Henning; Mikkelsen, Margareta

doi:10.1136/jmg.29.10.704

Cited by 27 publications

(48 citation statements)

References 20 publications

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“…There were only isolated case reports or large aberrations described with epilepsy on chromosomes 10 (120-126), 11 (37,127), 12 (128), and 13 (129)(130)(131). Trisomy 12p was associated with myoclonic absences and generalized spike-waves in three patients (132,133).…”

Section: Chromosomes 10 To 13mentioning

confidence: 99%

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

et al. 2002

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Summary:Purpose: We analyzed databases on chromosomal anomalies and epilepsy to identify chromosomal regions where abnormalities are associated with clinically recognizable epilepsy syndromes. The expectation was that these regions could then be offered as targets in the search for epilepsy genes.Methods: The cytogenetic program of the Oxford Medical Database, and the PubMed database were used to identify chromosomal aberrations associated with seizures and/or EEG abnormalities. The literature on selected small anomalies thus identified was reviewed from a clinical and electroencephalographic viewpoint, to classify the seizures and syndromes according to the current International League Against Epilepsy (ILAE) classification.Results: There were 400 different chromosomal imbalances described with seizures or EEG abnormalities. Eight chromosomal disorders had a high association with epilepsy. These comprised: the Wolf-Hirschhorn (4p-) syndrome, MillerDieker syndrome (del 17p13.3), Angelman syndrome (del 15q11-q13), the inversion duplication 15 syndrome, terminal deletions of chromosome 1q and 1p, and ring chromosomes 14 and 20. Many other segments had a weaker association with seizures. The poor quality of description of the epileptology in many reports thwarted an attempt to make precise karyotypephenotype correlations.Conclusions: We identified certain chromosomal regions where aberrations had an evident association with seizures, and these regions may be useful targets for gene hunters. New correlations with specific epilepsy syndromes were not revealed. Clinicians should continue to search for small chromosomal abnormalities associated with specific epilepsy syndromes that could provide important clues for finding epilepsy genes, and the epileptology should be rigorously characterized.

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Section: Chromosomes 10 To 13mentioning

confidence: 99%

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

et al. 2002

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“…In our opinion, such frequency could be explained by the observation that the breakpoints in ring chromosome 13 are mostly outside the RB1 locus, namely, at 13q34/13q33 or at 13q32/13q31 (Brandt et al 1992). However, the occurrence of retinoblastoma is reported to be often bound with the defect on the RB1 locus 13q14 (Jones 1988;Tommerup & Lothe 1992;Liberfarb et al1984;Raizman 1987).…”

Section: Discussionmentioning

confidence: 91%

“…The most frequent ophthalmic changes in ring chromosome 13 syndrome are hypertelorism and epicanthic folds associated with facial dysmorphism whereas uveal coloboma, microphthalmos, and optic nerve hypoplasia are rare (Allderdice et al 1969, Bilchik et al 1972, Brandt et al 1992. Patients with ring formation in chromosomal group D (chromosomes 13, 14, and 15), besides having optic disc hypoplasia, also had histopathologically confirmed retinal dysplasia, which was found in the neighbourhood of the chorioretinal colobomas (Bilchik et al 1972).…”

Section: Discussionmentioning

confidence: 99%

Retinal detachment in an infant with the ring chromosome 13 syndrome

Filouš¹,

Rašková

Kodet

1998

Acta Ophthalmologica Scandinavica

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ABSTRACT.Purpose: To inform about retinal detachment in an infant with the ring chromosome 13 as a possible new feature of this syndrome. The finding is able to imitate retinoblastoma, which is closely connected to the deletion of 13q14. Methods: We report on a girl with many congenital anomalies including hypoplasia of both optic discs and chorioretinal coloboma of the right eye. Chromosomal analysis revealed karyotype 46 XX with a ring chromosome 13. The patient was examined again at 15 months of age, where leukocoria was disclosed in the left eye, emerging from a retrolental greyish-white mass. Even though neither sonography nor CT showed a typical picture for retinoblastoma, this tumor could not be ruled out. Enucleation of the left eye was performed. The globe was then investigated histopathologically. Results: No tumor was found in the removed eye. Microscopic examination showed a detached retina with reactive gliosis and neovascularisation. Conclusions:The possibility of retinal detachment should be included into differential diagnoses in infants with ring 13 chromosome in cases with a nonspecific intraocular mass. The assessment of chromosomal breakpoints in children with this aberration would enable clinicians to determine the real risk of retinoblastoma.

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“…The occurrence of mosaicism for a ring 13 chromosome resulting in deletion is rare [10][11][12]. Partial deletion of the long arm of one of the D-group chromosomes was reported as deletion 13q syndrome, and was associated with growth-deficient patients with retinoblastoma [1].…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of a Case of Partial Monosomy^|^frasl;Monosomy 13 Mosaicism: 46,XX,r(13)(p11q33)^|^frasl;45,XX,-13 Suspected by Nuchal Fold Translucency Increasing

et al. 2011

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Summary:Large numbers of patients with deletions of the long arm of chromosome 13 have been described. However, only a few instances have been reported of monosomy 13/r(13) mosaicism. A 31-year-old Japanese woman underwent an ultrasound tomographic screening, which detected a fetus with a nuchal translucency (NT) of >5.8mm, indicating an increased risk of fetal chromosomal abnormality. An amniocentesis (AC) was performed, and the karyotype was 46,XX,r (13)(p11q33)[18]/45XX [12]. Ultrasound showed echogenic skin edema. Phenotype of the fetus after delivery revealed some anomalies, including hyponasal bridge, hypertelorism, ambiguous genitalia with huge clitoris, low-set ear, neck edema and webbing.Deletion of the long arm of chromosome 13 is associated with a wide spectrum of abnormalities, including retinoblastoma, mental and growth retardation, brain malformations, heart defects, distal limb deformities, and digestive, urogenital, and other abnormalities. The present case, however, had anomalies which were too faint to be detected by ultrasound tomography. Prenatal diagnosis of deletion 13q syndrome is rare. A number of reports have documented an association between increased NT and chromosomal defects. Ultrasound did not identify any major anomaly in this case, however amniocentesis was able to detect this rare abnormality.

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Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q.

Abstract: A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13)

Cited by 27 publications

References 20 publications

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

Retinal detachment in an infant with the ring chromosome 13 syndrome

Prenatal Diagnosis of a Case of Partial Monosomy^|^frasl;Monosomy 13 Mosaicism: 46,XX,r(13)(p11q33)^|^frasl;45,XX,-13 Suspected by Nuchal Fold Translucency Increasing

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