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

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]

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]

While SNP array presented a two copies duplication of 15q11.1q13.3: arr[hg19] 15q11.1q13.3(20,161,372-370,069) ×4. [molecularcytogenetics.biomedcentral.com]

The proband, III-4, had birth defects, renal carcinoma, and presented polyps like her father and passed the 15q duplication to her two sons, but not her daughter (IV-3). [frontiersin.org]

• Precocious Puberty

  puberty and, in females, menstrual irregularities; minor genital abnormalities in males such as undescended testes (cryptorchidism); overeating; and excessive weight gain. [malacards.org]

  Moreover, the girl presented precocious puberty and epilepsy at about 8 years old, while whether these symptoms will appear in our patient needs to be followed up. [molecularcytogenetics.biomedcentral.com]

  puberty, central, 2 Autosomal dominant MAGEL2 15q11.2 605283 MAGE family member L2 Schaaf-Yang syndrome Autosomal dominant NDN 15q11.2 602117 necdin, MAGE family member Prader-Willi syndrome Autosomal dominant SNRPN 15q11.2 182279 small nuclear ribonucleoprotein [onlinelibrary.wiley.com]

• Recurrent Respiratory Infections

  These features are typically subtle and may not be noticed during infancy.Other problems associated with dup15q syndrome in some affected individuals include a reduced ability to feel pain; a spine that curves to the side (scoliosis); recurrent respiratory [malacards.org]

  Other problems associated with dup15q syndrome in some affected individuals include a reduced ability to feel pain; a spine that curves to the side (scoliosis); recurrent respiratory infections in childhood; a skin condition called eczema; early (precocious [medlineplus.gov]

• Recurrent Urinary Tract Infection

  Six cases (35%) had urological conditions including urethral stricture, polyuria, urge incontinence, nephrectomy and recurrent urinary tract infections. [journals.plos.org]

• Multiple Congenital Anomalies

  We show, for the first time, that paternal duplications lead to an increased risk of developing DD/ASD/multiple congenital anomalies (MCA), but do not appear to increase risk for SZ. [journals.plos.org]

• 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]

• Abnormal Behavior

  Abnormal behavior in a chromosome-engineered mouse model for human 15q11–13 duplication seen in autism. Cell. 2009;137:1235–46. [PMC free article: PMC3710970] [PubMed: 19563756] Orrico A, Zollino M, Galli L, Buoni S, Marangi G, Sorrentino V. [rarediseases.org]

• 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. [malacards.org]

  Other types of seizures include partial complex seizures, generalised myoclonic seizures with adult onset, generalised tonic–clonic seizures, and benign epilepsy with centrotemporal spikes. [elsevier.es]

  Diseases CHROMOSOME 15q11-q13 DUPLICATION SYNDROME 15q11q13 Microduplication Syndrome Description The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures [mendelian.co]

  Maternal duplications involving 15q11.2-q13 region have been also associated with autism, developmental delay, intellectual handicap, seizures, and hypotonia [5] and are a recognized genetic syndrome [6]. [hindawi.com]

• Language Delays

  Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet. 2011;130:517–28. [PubMed: 21359847] Cassidy SB, Driscoll DJ. [rarediseases.org]

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]

Currently there are no specific treatments for children with dup15q syndrome, however there are therapies available to address specific symptoms associated with dup15q syndrome, such as such as antiepileptic medications, physical, occupational, and speech [jestelab.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]

However, there are no comprehensive treatment guidelines for fetuses with 15q11-q13 microdeletions and microduplications. [onlinelibrary.wiley.com]

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]