Eleven new cases of del(9p) and features from 80 cases.

Huret, JL; Léonard, Claude; Forestier, Bastien; Rethoré, M O; Lejeune, J

doi:10.1136/jmg.25.11.741

Cited by 149 publications

(155 citation statements)

References 35 publications

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“…Eighty cases of del(9p) and nineteen cases of dup(9q) were reviewed by Huret et al (1988) and Yamamoto et al (1988) respectively. Since the clinical findings of patients with del(9p) or dup(gq) are consistent in each, these chromosomal abnormalities have been established as clinically recognizable syndromes.…”

Section: Discussionmentioning

confidence: 99%

9p Deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32)

et al. 1991

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Section: Discussionmentioning

confidence: 99%

9p Deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32)

et al. 1991

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“…Seizures occur in <10% of cases of this relatively common deletion, which frequently occurs in combination with other chromosomal aberrations (117). In 80 cases of 9p deletion, 39 had a pure 9p deletion, and 41 occurred with another unbalanced chromosome segment.…”

Section: Chromosomementioning

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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“…Case 2: 46, XY, der(9), t(9;13)(p22;q14) Patient 2, who is newly reported here, carries partial monosomy 9p22-pter and partial trisomy 13q14-qter and shares clinical features with both the del(9p) syndrome (ie multiple craniofacial abnormalities) 17 and trisomy 13 (ie polydactyly, low set deformed ears). 18 The mother is a balanced t(9;13) translocation carrier.…”

Section: Case Historiesmentioning

confidence: 99%

FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates

et al. 2000

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Accumulating evidence suggests that haploinsufficiency of a dosage-sensitive gene(s) in human chromosome 9p24.3 is responsible for the failure of testicular development and feminisation in XY patients with monosomy for 9p. We have used molecular cytogenetic methods to characterise the sex-reversing 9p deletions in two XY females. Fluorescence in situ hybridisation (FISH) with YACs from the critical 9p region containing an evolutionarily conserved sex-determining gene, DMRT1, is a very fast and reliable assay for patient screening. Comparative YAC mapping on great ape and Old and New World monkey chromosomes demonstrated that the critical region was moved from an interstitial position on the ancestral primate chromosome to a very subtelomeric position in chimpanzee and humans by a pericentric inversion(s). Pathological 9p rearrangements may be the consequence of an evolutionary chromosome breakpoint in close proximity to the sex-reversal region.

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Eleven new cases of del(9p) and features from 80 cases.

Cited by 149 publications

References 35 publications

9p Deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32)

9p Deletion and distal 9q duplication due to a paternal pericentric inversion 9(p22q32)

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

FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates

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