Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. [semanticscholar.org]

The clinical presentation is described in the text and the molecular findings summarised in table 1 with microsatellite data shown in fig 1. [jmg.bmj.com]

These patients presented tonic-atonic, tonic–clonic, and absence seizures. [elsevier.es]

Behavioural problems were presented with autistic features (3 children), stereotypes (4 children), hyperactivity (3 children), aggression (1 child). Elements of abdominal obesity noted in one patient. [adc.bmj.com]

Case Presentation and Discussion In the present study, a four-year-old nondysmorphic female patient with developmental delay was found to have a class II de novo ~5 Mb duplication within 15q11.2, between BP2 and BP3, by oligonucleotide 180 K microarray [hindawi.com]

• Failure to Thrive

  Deletions flanked by BP3 and BP4 may contribute to variable abnormal phenotypes including short stature, failure to thrive, microcephaly, and hypotonia [3]. [hindawi.com]

• Small Hand

  Historically, she had the typical features seen in PWS including a narrow forehead, small upturned nose, downturned mouth, hypotonia, small hands and feet, obesity in early childhood, learning and behavioural problems, and skin picking. [jmg.bmj.com]

• Seizure

  In other affected individuals, seizures begin with a type called infantile spasms (seizures that usually appear before the age of 1 and involve recurrent muscle contractions) and later include other types of seizures. [ncbi.nlm.nih.gov]

  which frequently include focal seizures, myotonic seizures, tonic-clonic seizures, absence seizures and, in less common cases, Lennox-Gastaut syndrome. [ivami.com]

  A survey of seizures and current treatments in 15q duplication syndrome. Epilepsia. 2014;55:396-402. In the case reported herein, 70% of cells carried the marker chromosome 15. [scielo.br]

• Epileptiform Activity

  Typical epileptiform activity was not registered. Two children had cardiac arrhythmias: recurrent ventricular tachycardia in one patient, recurrent ectopic atrial tachycardia, transient AV block- in another. [adc.bmj.com]

A survey of seizures and current treatments in 15q duplication syndrome. Epilepsia. 2014;55:396-402. In the case reported herein, 70% of cells carried the marker chromosome 15. [scielo.br]

Therefore, retinoic acid supplementation in the treatment of dup15q syndrome is a potential therapeutic target. [clinicaltrials.gov]

Now the boy is receiving direct current therapy, we’ll keep track of the treatment. [molecularcytogenetics.biomedcentral.com]

Johnson J, Peterson Kraai TL, Wilson R, Tartaglia N, LeRoux J, Beischel L, McGavran L, Hagerman RJ. (2003) Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment [guidetopharmacology.org]

"A survey of seizures and current treatments in 15q duplication syndrome." Epilepsia 55.3 (2014): 396-402. ^ Shaaya, Elias A., et al. "Gastrointestinal problems in 15q duplication syndrome." [en.wikipedia.org]

Many important genes in the 15q11.2-13.1 region likely play crucial roles in the etiology of Dup15q syndrome. [en.wikipedia.org]

As regards the comparison of the results obtained in spermatozoa with the PWS etiology, no relation between an increase of deletions and duplications in sperm and the etiology was observed. [academic.oup.com]

MS-MLPA can therefore be used as an adjunct technology to elucidate the etiologic mechanism of 15q11.2-q13 rearrangements detected by microarray or karyotype. [hindawi.com]

ASDs are etiologically heterogeneous, with an underlying genetic disorder identified in 10%–25% of cases. [hal.inserm.fr]

Therefore, clinicians should refer to pregnant women's multiple data points to avoid misjudging etiology, diagnosis, and clinical importance. [onlinelibrary.wiley.com]

It also should be noted that none of these studies were based on epidemiological samples and the possibility of ascertainment biases cannot be excluded. [hal.inserm.fr]

Nevertheless, it is considered that the deletions causing PWS, as well as other genomic disorders, have the same recurrence risk as that found in the general population, established from epidemiological studies, to be less than 0.5% (Gardner and Sutherland [academic.oup.com]

Prevention of sudden unexpected death in epilepsy: a realistic goal? Epilepsia. 2013;54 Suppl 2:23–8. [PubMed: 23646967] Samaco RC, Hogart A, LaSalle JM. [rarediseases.org]