These patients presented with evidence of prenatal overgrowth and developed postnatal overgrowth. [hindawi.com]

In addition, we present data on the extended family. Among patients with epilepsy followed up in our hospital, we identified 2 brothers (Figure 1) with epilepsy and mental retardation who presented dysmorphic features. [jamanetwork.com]

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

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

The present observation emphasises the importance of chromosome analysis in patients with overgrowth and mental retardation. [nature.com]

• Epilepsy

  Among patients with epilepsy followed up in our hospital, we identified 2 brothers (Figure 1) with epilepsy and mental retardation who presented dysmorphic features. [jamanetwork.com]

  For that reason, high-resolution karyotyping and molecular cytogenetic analysis are recommended for all patients with developmental delays, epilepsy (especially drug-resistant epilepsy) and autism, whether or not they present dysmorphic features, in order [elsevier.es]

  A few large studies have found recurrent microdeletions or duplications in the 15q11-q13 region for idiopathic epilepsies, autism, and combined schizophrenia and epilepsy [11–16]. [molecularcytogenetics.biomedcentral.com]

  Deletion 2q373->qter and duplication 15q243->qter characterized by array CGH in a girl with epilepsy and dysmorphic features. Genetic Counseling 2010 21 263–267. [ec.bioscientifica.com]

• Asymptomatic

  That the offspring of individual III:9 (male with balanced translocation) were asymptomatic corroborates our theory, although they have not been karyotyped. [jamanetwork.com]

• Developmental Disorder

  The top three functional networks based on levels of statistical significance are developmental disorder, hereditary disorder, and neurological disease. [molecularcytogenetics.biomedcentral.com]

• Precocious Puberty

  Rodolico’, University of Catania, at the age of 7 years, for clinical signs of precocious puberty. [ec.bioscientifica.com]

• Heart Disease

  The presence of congenital heart disease, skeletal abnormalities, respiratory distress/infection, and seizures varied among patients. Our case is, to our knowledge, the first de novo interstitial tandem duplication of only the medial region of 15q. [jmg.bmj.com]

  Commonly associated defects include seizures and congenital heart disease, a common cause of premature death in these children. [indianpediatrics.net]

• Psychomotor Retardation

  Patient three, with a 46,XX r(15) (p10q26.2) karyotype, displayed intrauterine growth retardation, developmental delay, mental and psychomotor retardation. [ec.bioscientifica.com]

  retardation, seizures, hyper-reactivity and dermatoglyphic abnormalities. 61 Zannotti M...Dallapiccola B 7218339 1980 29 A new case of partial trisomy 15q-. 61 Geneix A...Crost P 511166 1979 30 [Distal trisomy 15q]. 61 Turleau C...Roubin M 304707 1977 [malacards.org]

  Partial trisomy 15 in a male with severe psychomotor retardation (48, XY, +15q-,+mar (15)). Am J Med Genet 1982;12:131-9. 9. Gerber JC, Neuhann TM, Tyshchenko N, Smitka M, Hackmann K. [pediatricneurosciences.com]

  Partial trisomy 15 in a male with severe psychomotor retardation (48, XY, +15q-,+mar (15)) Am J Med Genet. 1982;12:131–9. [PubMed] [Google Scholar] 9. Gerber JC, Neuhann TM, Tyshchenko N, Smitka M, Hackmann K. [ncbi.nlm.nih.gov]

  She was referred to us at 6 years of age for overgrowth and psychomotor retardation. At this time, her height was 137 cm (+4 SD), weight was 32.4 kg (+4 SD) and OFC was 61 cm (+5 SD). [nature.com]

• Abnormal Behavior

  Results Clinical findings included minor dysmorphic features, mental retardation, abnormal behavior, and secondary generalized epilepsy. [jamanetwork.com]

• Seizure

  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]

  At age 8 years he began to have generalized seizures with poor control despite medication. [jamanetwork.com]

  There was no history of seizures, encephalopathy, or jaundice in the neonatal period. He developed social smile at 3 months, and was recognizing his mother and reaching out for objects at the time of presentation. [pediatricneurosciences.com]

  Commonly associated defects include seizures and congenital heart disease, a common cause of premature death in these children. [indianpediatrics.net]

• Convulsions

  It has been suggested that the degree of intellectual impairment and psychomotor delay could be correlated with the severity and intractability of convulsions. [elsevier.es]

  During her first year of life she had a febrile convulsion and delayed neuropsychomotor development. She started having tonic-clonic seizures in adulthood, partially controlled by medication. [jamanetwork.com]

• Generalized Tonic-Clonic Seizure

  He developed generalized tonic-clonic seizures at age 3 years, with satisfactory control on medication. In addition, he showed abnormal behavior with heteroaggressivity, controlled with medication. [jamanetwork.com]

• Echolalia

  They also display cognitive deficit in the areas of comprehension and expressive language (some exhibit echolalia). Their behaviour is frequently referred to as autistic or autistic-like. [elsevier.es]

• Language Delays

  He first presented at 5 years and 8 months of age with severe language delay, hyperactivity and a preoccupation with water. His verbal language was limited to the repetition of a few words and pointing for needs. [molecularcytogenetics.biomedcentral.com]

Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Additional abnormalities may involve malformation of the skeleton, spine and neck; fingers and/or toes; genitals (particularly in males); and, in some cases, heart problems.[1][2] Treatment[edit] The condition is incurable and treatment is based on alleviating [en.wikipedia.org]

IGF1R gene may also be involved in the etiology of neurological symptoms of these patients. [ec.bioscientifica.com]

Hosak L, Silhan P, Hosakova J: Genomic copy number variations: a breakthrough in our knowledge on schizophrenia etiology? Neuro Endocrinol Lett 2012, 33: 183–190. 19. [molecularcytogenetics.biomedcentral.com]

Contents 1 Signs and symptoms 2 Treatment 3 Epidemiology 4 See also 5 References 6 External links Signs and symptoms[edit] The disorder is primarily characterized by growth abnormalities, which range from growth retardation to accelerated growth, intellectual [en.wikipedia.org]

The importance of extended family screening for the same balanced translocation on the mother's side; and its importance for the prevention of recurrences in the extended family has been explained. [pediatricneurosciences.com]

The size of the translocated 13q segment prevents its visualization. (c) Unbalanced translocation der(13)t(13;15). (d) CGH showing trisomy 15q26.1qter. The monosomy 13q is not detected. [nature.com]

In addition, physicians may recommend preventive measures for affected infants and children who may be prone to repeated respiratory infections. [rarediseases.org]