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]

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]

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]

Clinical presentation[edit] Individuals with Dup15q syndrome are at high risk for epilepsy, autism, and intellectual disability. Motor impairments are very common in individuals with the disorder. [en.wikipedia.org]

• Infertility

  Spermiogenesis and DNA repair: a possible etiology of human infertility and genetic disorders, Syst Biol Reprod Med, 2008, vol. 54 (pg. 3 - 10 ). [academic.oup.com]

  Clinical diagnosis Pregnancy with chronic hepatitis B Birth history of deaf children, The couple suffered from thalassemia IVF-ET, 16p13.11 microdeletion FGR and CSP are slightly narrower Spontaneous abortion three times, elderly couple IVF, Primary infertility [onlinelibrary.wiley.com]

  Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med. 2007;19(5):719–31. PubMed Google Scholar 4. Starke H, Nietzel A, Weise A, et al. [molecularcytogenetics.biomedcentral.com]

• Crying

  He didn’t even cry when being hungry or took blood from his veins. The proband was born to nonconsanguineous parents who had given birth to a healthy girl before him. [molecularcytogenetics.biomedcentral.com]

• Trisomy 21

  Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of Down syndrome: increased incidence in cases of paternal origin, Am J Hum Genet, 1998, vol. 63 (pg. 1067 - 1072 ), ,,. [academic.oup.com]

• Eating Problem

  The syndrome is characterized by low blood pressure in infancy, poor sucking with eating problems and hypoplasia, hypogonadism, and reduced growth hormone production, resulting in short stature, short feet, stunted growth, and mild facial deformities. [onlinelibrary.wiley.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]

• Compulsive Disorder

  Attention-deficit/hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD) are associated with TUBGCP5 expression. [onlinelibrary.wiley.com]

• Phenylketonuria

  Neonatal diseases screening showed the levels within the normal range of Phenylketonuria/ thyroid stimulating hormone / Glucose-6-phosphate dehydrogenase / Congenital adrenal hyperplasia. [molecularcytogenetics.biomedcentral.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. [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]

• Behavior Problem

  Most individuals with this disorder have autism spectrum disorder (ASD), and many have language problems associated with ASD such as repeating the words of others (echolalia) or repeating particular phrases (stereotypical utterances).Behavioral difficulties [malacards.org]

  While inverted duplication of proximal chromosome 15 (inv dup(15)) appearing in phenotypically normal individual chromosomes have been reported [7, 8], they are more tend to be result in mental retardation, structural malformation, behavioral problems [molecularcytogenetics.biomedcentral.com]

• Speech Disorder

  Through clinical studies, the pathogenesis of AS is characterized by cognitive impairment, dyskinesia, speech disorder, hyperactivity, and frequency of occurrence. Unfortunately, there is no cure for AS. [onlinelibrary.wiley.com]

• Spastic Paraplegia

  Morbid genes in the region of 15q11.2-q13 and the associated phenotype Gene location OMIM Explanation Phenotype Inheritance NIPA1 15q11.2 608145 NIPA magnesium transporter 1 Spastic paraplegia 6, autosomal dominant Autosomal dominant MKRN3 15q11.2 603856 [onlinelibrary.wiley.com]

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]

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]

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]