The inv dup(15) syndrome

Battaglia, Agatino; Gurrieri, Fiorella; Bertini, Enrico; Bellacosa, Alfonso; Pomponi, Maria Grazia; Paravatou-Petsotas, M; Mazza, Salvatore; Neri, Giovanni

doi:10.1212/wnl.48.4.1081

Cited by 99 publications

(109 citation statements)

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“…The boy we described had severe psychomotor retardation and developed complex seizures, common findings in the individuals with an additional inv dup(15) chromosome containing the PWS/AS critical region [Battaglia et al, 1997]. The 15q11-q13 region is known to be unstable, probably due to the presence of region-specific low-copy repeats, and to be frequently involved in structural rearrangements such as deletion, duplication, triplication, and formation of inverted duplication.…”

Section: Discussionmentioning

confidence: 81%

Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia

Akahoshi

Spritz

Fukai

et al. 2003

American J of Med Genetics Pt A

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Association of the pink-eye-dilution gene (P) with hypopigmentation is seen in patients who have oculocutaneous albinism type 2 (OCA2) and Prader-Willi syndrome (PWS) or Angelman syndrome (AS). However, it remains unknown whether duplication or amplification of the P gene causes hyperpigmentation. We previously reported a woman who had hyperpigmentation with a duplication of the proximal part of 15q, including the P gene. Here, we describe an additional patient with mosaicism of inv dup(15) and clinical manifestations of severe psychmoter retardation, epilepsy, and pigmentary dysplasia showing mottled and linear patterns of hyperpigmentation. His karyotype was 47,XY,+idic(15)(pter-->q14::q14-->pter)[38]/46,XY[12] de novo. Chromosomal fluorescence in situ hybridization (FISH) showed six copies of the P gene. Therefore, his cutaneous mosaicism might be caused by the presence of both normal and hyperpigmented skin due to multicopies of the P gene.

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Section: Discussionmentioning

confidence: 81%

Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia

Akahoshi

Spritz

Fukai

et al. 2003

American J of Med Genetics Pt A

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“…Because most reports are anecdotal [Elia et al, 2001], the identification of the electro-clinical patterns in patients with specific chromosome anomalies remains difficult. In the last decade, specific electroencephalographic (EEG)/epileptic features have been reported in several chromosomal disorders [Boyd et al, 1988;Guerrini et al, 1990;Battaglia et al, 1997;Canevini et al, 1998;Buoni et al, 1999;Gobbi et al, 2002;Grosso et al, 2004a]. By contrast, polymorphic electroclinical patterns have recently been observed in patients with 1p-36 syndrome [Singh et al, 2002] and pericentric inversion of chromosome 12 [Grosso et al, 2004b].…”

Section: Introductionmentioning

confidence: 99%

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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“…Seizures in AS are frequent (>80%) and well characterized, 26,27 but seizure data in individuals with Dup15q are limited, [28][29][30] with lifetime prevalence estimates of 26.5-50%. 6,8,31,32 Infantile spasms are associated with maternally inherited duplications of 15q11-q13, suggesting a role for GABAergic synapses and postsynaptic density in the etiology of Dup15q seizure semiology.…”

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confidence: 99%

“…29,30 Metabolic workup and intracranial magnetic resonance imaging (MRI) are typically normal and characterization of seizures is limited in prior studies, which describe early onset of treatment-refractory epilepsy evolving into a Lennox-Gastaut syndrome (LGS) phenotype. 23,29 Among 10 individuals with idic15, 7 presented with epilepsy and the most severely affected had the smallest duplication marker in the PWACR. Seizures were characterized by infantile spasms, with four evolving into epilepsy with multiple seizure types and one remaining seizure-free following spasms responsive to steroid treatment.…”

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confidence: 99%

A survey of seizures and current treatments in 15q duplication syndrome

et al. 2014

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SUMMARYObjective: Seizures are common in individuals with duplications of chromosome 15q11.2-q13 (Dup15q). The goal of this study was to examine the phenotypes and treatments of seizures in Dup15q in a large population. Methods: A detailed electronic survey was conducted through the Dup15q Alliance containing comprehensive questions regarding seizures and their treatments in Dup15q.Results: There were 95 responses from Dup15q families. For the 83 with idic(15), 63% were reported to have seizures, of which 81% had multiple seizure types and 42% had infantile spasms. Other common seizure types were tonic-clonic, atonic, myoclonic, and focal. Only 3 of 12 individuals with int dup(15) had seizures. Broad spectrum antiepileptic drugs (AEDs) were the most effective medications, but carbamazepine and oxcarbazepine were also effective, although typical benzodiazepines were relatively ineffective. There was a 24% response rate (>90% seizure reduction) to the first AED tried. For those with infantile spasms, adrenocorticotropic hormone (ACTH) was more effective than vigabatrin. Significance: This is the largest study assessing seizures in Duplication 15q syndrome, but because this was a questionnaire-based study with a low return rate, it is susceptible to bias. Seizures are common in idic(15) and typically difficult to control, often presenting with infantile spasms and progressing to a Lennox-Gastaut-type syndrome. Seizures in those with int dup(15) are less common, with a frequency similar to the general autism population. In addition to broad spectrum AED, medications such as carbamazepine and oxcarbazepine are also relatively effective in controlling seizures in this population, suggesting a possible multifocal etiology, which may also explain the high rate of infantile spasms. Our small sample suggests a relative lack of efficacy of vigabatrin and other c-aminobutyric acid (GABA)ergic medications, such as typical benzodiazepines, which may be attributable to abnormal GABAergic transmission resulting from the duplication of a cluster of GABAb3 receptor genes in the 15q11.2-13 region.

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The inv dup(15) syndrome

Cited by 99 publications

References 0 publications

Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia

Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia

Chromosome 18 aberrations and epilepsy: A review

A survey of seizures and current treatments in 15q duplication syndrome

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