Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.

Schinzel, Albert; Binkert, Franz; Lillington, Debra M.; Sands, M.; Stocks, R J; Lindenbaum, R H; Matthews, Helen; Sheridan, H

doi:10.1136/jmg.28.5.352

Cited by 34 publications

(34 citation statements)

References 3 publications

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“…Kanazawa et al [1989] described an adolescent with18qDS presenting with hemiclonic convulsions and horizontal nystagmus associated with a prominent left occipital paroxysmal activity. Tonicclonic seizures were also observed in a child carrying an interstitial deletion of the long arm of chromosome 18(q12.2q21.1), but no information on EEG anomalies was provided [Schinzel et al, 1991]. An unspecified type of epilepsy was also reported in a girl with an atypical Rett syndrome carrying an interstitial deletion of chromosome 18(q21.1q22.3) [Gustavsson et al, 1999].…”

Section: Discussionmentioning

confidence: 94%

Chromosome 18 aberrations and epilepsy: A review

et al. 2005

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Epilepsy is commonly observed in patients with chromosomal aberrations. We evaluated epilepsy and electroencephalographic (EEG) features in a group of patients carrying aberrations of chromosome 18. Fourteen patients were recruited: five with an 18p deletion syndrome (18pDS); six with an 18q deletion syndrome (18qDS); two with trisomy 18p syndrome; and one with a 45,XY,t(17-18) (cen-q11.2) karyotype. Patients with 18pDS had neither epilepsy nor EEG anomalies; four patients with 18qDS had epilepsy with partial seizures occurring during infancy or early childhood. Partial seizures were also present in both patients with trisomy 18p. By contrast, mixed seizures were observed in the patient carrying a translocation between chromosomes 17 and 18. Our data and a re-evaluation of the literature suggest that epilepsy is infrequent in patients with 18pDS. Conversely, partial seizures and focal EEG anomalies may be observed in those with patients with 18qDS. Our observations suggest that the haplo-insufficiency of genes located on the long arm of chromosome 18 is more likely to be associated with epilepsy, than is haplo-insufficiency of genes located on the short arm. While further EEG/clinical investigations are needed to validate these observations, this study indicates a possible relationship between chromosome 18 genes and epilepsy.

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Section: Discussionmentioning

confidence: 94%

Chromosome 18 aberrations and epilepsy: A review

et al. 2005

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“…Mental retardation is found in case reports of all three abnormalities (18p-, 18q-, and 18p tetrasomy), and in one study was estimated at 68% of all 18q deletion subjects [Semrud-Clikeman et al, 2005]. Abnormal EEG findings and epilepsy have been described in case reports for all three chromosomal disorders [Chudley et al, 1974;Wilson et al, 1979;Wilson and Al Saadi, 1989;Schinzel et al, 1991;Chudley et al, 1992;Krasikov et al, 1992;Poissonnier et al, 1992;Engelen et al, 1998;Tinkle et al, 2003;Linnankivi et al, 2006;Swingle et al, 2006;Brenk et al, 2007;Cody et al, 2007]. Many subjects with 18p or 18q deletions display delayed speech, mutism, or articulation difficulties [Thompson et al, 1986;Poissonnier et al, 1992;Grosso et al, 1999;Babovic-Vuksanovic et al, 2004;Wester et al, 2006;Brenk et al, 2007;Cody et al, 2007] and there has been one report of short Neuropsychiatric Genetics attention span in three out of three 18p-subjects [Thompson et al, 1986].…”

mentioning

confidence: 93%

Psychiatric syndromes in individuals with chromosome 18 abnormalities

Zavala

Ramirez

Medina

et al. 2009

American J of Med Genetics Pt B

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Chromosome 18 abnormalities are associated with a range of physical abnormalities such as short stature and hearing impairments. Psychiatric manifestations have also been observed. This study focuses on the presentations of psychiatric syndromes as they relate to specific chromosomal abnormalities of chromosome 18. Twenty-five subjects (13 with an 18q deletion, 9 with 18p tetrasomy, and 3 with an 18p deletion), were interviewed by psychiatrists (blind to specific chromosomal abnormality) using the DIGS (subjects 18 and older) or KSADS-PL (subjects under 18). A consensus best estimation diagnostic process was employed to determine psychiatric syndromes. Oligonucleotide Array Comparative Genomic Hybridization (Agilent Technologies) was utilized to define specific regions of chromosome 18 that were deleted or duplicated. These data were further analyzed to determine critical regions of the chromosome as they relate to phenotypic manifestations in these subjects. 58.3% of the chromosome 18q- deletion subjects had depressive symptoms, 58.3% had anxiety symptoms, 25% had manic symptoms, and 25% had psychotic symptoms. 66.6% of the chromosome 18p- deletion subjects had anxiety symptoms, and none had depressive, manic, or psychotic symptoms. Fifty percent of the chromosome 18p tetrasomy subjects had anxiety symptoms, 12.5% had psychotic symptoms, and 12.5% had a mood disorder. All three chromosomal disorders were associated with high anxiety rates. Psychotic, manic and depressive disorders were seen mostly in 18q- subjects and this may be helpful in narrowing regions for candidate genes for these psychiatric conditions.

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“…The CNVs identiWed in cases 1 and 2 were recently described in patients with BPES-like features, developmental delay and other dysmorphic features (Schinzel et al 1991;Tinkle et al 2003;Shaw-Smith et al 2006;Koolen et al 2006;Koolen et al 2008).…”

Section: De Novo Single Cnvsmentioning

confidence: 86%

“…The patient died at the age of 4. Several cases have been described with del(18)(q12.2q21.1) showing a consistent clinical pattern of mild dysmorphic features, blepharophimosis, obesity, mental retardation, seizures, behavioral problems and lack of major congenital anomalies (Schinzel et al 1991;Tinkle et al 2003).…”

Section: De Novo Single Cnvsmentioning

confidence: 99%

Identification of copy number variants associated with BPES-like phenotypes

et al. 2008

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Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) is a well-characterized rare syndrome that includes an eyelid malformation associated with (type I) or without premature ovarian failure (type II). Patients with typical BPES have four major characteristics: blepharophimosis, ptosis, epicanthus inversus and telecanthus. Mutations in the FOXL2 gene, encoding a forkhead transcription factor, are responsible for the majority of both types of BPES. However, many patients with BPES-like features, i.e., having at least two major characteristics of BPES, have an unidentiWed cause. Here, we report on a group of 27 patients with BPES-like features, but without an identiWed genetic defect in the FOXL2 gene or Xanking region. These patients were analyzed with whole-genome high-density arrays in order to identify copy number variants (CNVs) that might explain the BPES-like phenotype. In nine out of 27 patients (33%) CNVs not previously described as polymorphisms were detected. Four of these patients displayed psychomotor retardation as an additional clinical characteristic. In conclusion, we demonstrate that BPES-like phenotypes are frequently caused by CNVs, and we emphasize the importance of whole-genome copy number screening to identify the underlying genetic causes of these phenotypes.

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Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.

Cited by 34 publications

References 3 publications

Chromosome 18 aberrations and epilepsy: A review

Chromosome 18 aberrations and epilepsy: A review

Psychiatric syndromes in individuals with chromosome 18 abnormalities

Identification of copy number variants associated with BPES-like phenotypes

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