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Chromosome 15q11-q13 duplication syndrome

MedGen UID:
390767
Concept ID:
C2675336
Disease or Syndrome
Synonyms: 15q11.2-q13.1 Duplication Syndrome; DUPLICATION 15q11-q13 SYNDROME
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Multifactorial inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Sources: HPO, Orphanet
A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases.
Sporadic
MedGen UID:
342827
Concept ID:
C1853237
Finding
Sources: HPO, OMIM
Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected.
Inheritance with unknown mechanism
MedGen UID:
831588
Concept ID:
CN227389
Intellectual Product
Source: Orphanet
Describes an inherited disorder with unknown mode of inheritance.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
Sporadic (HPO, OMIM)
not inherited (Orphanet)
 
Cytogenetic location: 15q11
OMIM®: 608636
Orphanet: ORPHA238446

Disease characteristics

Excerpted from the GeneReview: 15q Duplication Syndrome and Related Disorders
15q duplication syndrome and related disorders (dup15q) are caused by presence of at least one extra maternally derived copy of the Prader-Willi/Angelman critical region (PWACR) within chromosome 15q11.2-q13.1. The extra copy or copies most commonly arise by one of two mechanisms: A maternal isodicentric 15q11.2-q13.1 supernumerary chromosome – idic(15) – typically comprising two extra copies of 15q11.2-q13.1 and resulting in tetrasomy for 15q11.2-q13.1 (~80% of cases); A maternal interstitial 15q11.2-q13.1 duplication that typically includes one extra copy of 15q11.2-q13.1 within chromosome 15, resulting in trisomy for 15q11.2-q13.1 (~20% of cases). Dup15q is characterized by hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms. Rarely, dup15q may also be associated with psychosis or sudden unexplained death. Those with maternal idic(15) are typically more severely affected than those with an interstitial duplication. [from GeneReviews]
Authors:
Brenda M Finucane  |  Laina Lusk  |  Dimitrios Arkilo, et. al.   view full author information

Additional descriptions

From OMIM
The features of the chromosome 15q11-q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems (Bundey et al., 1994; Burnside et al., 2011). See also chromosome 15q13.3 deletion syndrome (612001) and chromosome 15q11.2 deletion syndrome (615656). For a discussion of genetic heterogeneity of autism, see 209850.  http://www.omim.org/entry/608636
From GHR
15q11-q13 duplication syndrome (dup15q syndrome) is a developmental disorder; its signs and symptoms vary among affected individuals.Poor muscle tone (hypotonia) is common in individuals with dup15q syndrome and contributes to delayed development and impairment of motor skills, including sitting and walking. Most affected children develop the ability to walk independently after age 2 or 3, and they typically have a wide-based or uncoordinated (ataxic) pattern of walking (gait). Babies with dup15q syndrome often have trouble feeding due to weak facial muscles that impair sucking and swallowing.Intellectual disability also occurs in people with dup15q syndrome and can range from mild to profound; however, it is usually in the moderate to severe range. Speech and language development are particularly affected, with some individuals never developing functional speech. 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 are also associated with dup15q syndrome, including other features of ASD such as difficulty with changes in routine and problems with social interaction. Affected individuals may also experience hyperactivity, anxiety, and frustration leading to tantrums. Mood disorders and psychosis occur in some affected individuals.More than half of people with dup15q syndrome have recurrent seizures (epilepsy). The seizures usually develop between the ages of 6 months and 9 years. Some people with dup15q syndrome have only focal seizures, which affect one part of the brain and usually do not cause a loss of consciousness. 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. In addition to focal seizures, these can include rapid uncontrolled muscle jerks (myotonic seizures); tonic-clonic (also called grand mal) seizures, which involve rigidity, convulsions, and loss of consciousness; and absence (also known as petit mal) seizures, which are brief episodes of impaired consciousness that look like staring spells. Affected individuals may develop complex, difficult-to-treat (intractable) seizure patterns such as Lennox-Gastaut syndrome. Seizures can lead to falls, loss of developmental milestones (developmental regression), and in a small minority of cases, sudden death during sleep (called sudden unexpected death in epilepsy, or SUDEP).Hearing loss in childhood is common in dup15q syndrome and usually results from ear infections that cause fluid buildup in the middle ear. This hearing loss is often temporary. However, if ear infections are left untreated during early childhood, the hearing loss can interfere with language development and worsen the speech problems associated with dup15q syndrome.About 30 percent of individuals with dup15q syndrome are born with eyes that do not look in the same direction (strabismus). Other unusual facial features that can occur in this condition include a low forehead; outside corners of the eyes that point downward (downslanting palpebral fissures); a flattened nasal bridge with a short, upturned nose; nostrils that open to the front rather than downward (anteverted nares); a long space between the nose and the upper lip (philtrum); a small lower jaw (micrognathia); a high-arched roof of the mouth (palate); full lips; low-set ears; and a flat back of the head (occiput). 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 infections in childhood; a skin condition called eczema; early (precocious) puberty and, in females, menstrual irregularities; minor genital abnormalities in males such as undescended testes (cryptorchidism); overeating; and excessive weight gain.  https://ghr.nlm.nih.gov/condition/15q11-q13-duplication-syndrome

Clinical features

Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Stereotypy
MedGen UID:
21320
Concept ID:
C0038273
Mental or Behavioral Dysfunction
A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Impaired ability to form peer relationships
MedGen UID:
325221
Concept ID:
C1837649
Mental or Behavioral Dysfunction
Lack of spontaneous play
MedGen UID:
373380
Concept ID:
C1837650
Finding
Inflexible adherence to routines or rituals
MedGen UID:
324848
Concept ID:
C1837653
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Impaired use of nonverbal behaviors
MedGen UID:
867425
Concept ID:
C4021798
Mental or Behavioral Dysfunction
Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures.
Restrictive behavior
MedGen UID:
892681
Concept ID:
C4021799
Mental or Behavioral Dysfunction
Behavior characterized by an abnormal limitation to few interests and activities.
Increased serum serotonin
MedGen UID:
488950
Concept ID:
C0877243
Finding
A increased concentration of serotonin in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosome 15q11-q13 duplication syndrome
Follow this link to review classifications for Chromosome 15q11-q13 duplication syndrome in Orphanet.

Recent clinical studies

Etiology

Ververi A, Islam L, Bewes B, Busby L, Sullivan C, Canham N
Cytogenet Genome Res 2017;152(3):132-136. Epub 2017 Sep 13 doi: 10.1159/000480030. PMID: 28898887
Ulfarsson MO, Walters GB, Gustafsson O, Steinberg S, Silva A, Doyle OM, Brammer M, Gudbjartsson DF, Arnarsdottir S, Jonsdottir GA, Gisladottir RS, Bjornsdottir G, Helgason H, Ellingsen LM, Halldorsson JG, Saemundsen E, Stefansdottir B, Jonsson L, Eiriksdottir VK, Eiriksdottir GR, Johannesdottir GH, Unnsteinsdottir U, Jonsdottir B, Magnusdottir BB, Sulem P, Thorsteinsdottir U, Sigurdsson E, Brandeis D, Meyer-Lindenberg A, Stefansson H, Stefansson K
Transl Psychiatry 2017 Apr 25;7(4):e1109. doi: 10.1038/tp.2017.77. PMID: 28440815Free PMC Article
Chen CP, Lin SP, Lee CL, Chern SR, Wu PS, Chen YN, Chen SW, Wang W
Taiwan J Obstet Gynecol 2017 Feb;56(1):93-97. doi: 10.1016/j.tjog.2016.12.002. PMID: 28254235
Frohlich J, Senturk D, Saravanapandian V, Golshani P, Reiter LT, Sankar R, Thibert RL, DiStefano C, Huberty S, Cook EH, Jeste SS
PLoS One 2016;11(12):e0167179. Epub 2016 Dec 15 doi: 10.1371/journal.pone.0167179. PMID: 27977700Free PMC Article
Parikshak NN, Swarup V, Belgard TG, Irimia M, Ramaswami G, Gandal MJ, Hartl C, Leppa V, Ubieta LT, Huang J, Lowe JK, Blencowe BJ, Horvath S, Geschwind DH
Nature 2016 Dec 15;540(7633):423-427. Epub 2016 Dec 5 doi: 10.1038/nature20612. PMID: 27919067

Diagnosis

Chen CP, Chang SY, Wang LK, Chang TY, Chern SR, Wu PS, Chen SW, Lai ST, Chuang TY, Yang CW, Town DD, Chen LF, Wang W
Taiwan J Obstet Gynecol 2018 Oct;57(5):730-733. doi: 10.1016/j.tjog.2018.08.022. PMID: 30342661
Ververi A, Islam L, Bewes B, Busby L, Sullivan C, Canham N
Cytogenet Genome Res 2017;152(3):132-136. Epub 2017 Sep 13 doi: 10.1159/000480030. PMID: 28898887
Butler MG
J Intellect Disabil Res 2017 Jun;61(6):568-579. Epub 2017 Apr 7 doi: 10.1111/jir.12382. PMID: 28387067Free PMC Article
Chen CP, Lin SP, Lee CL, Chern SR, Wu PS, Chen YN, Chen SW, Wang W
Taiwan J Obstet Gynecol 2017 Feb;56(1):93-97. doi: 10.1016/j.tjog.2016.12.002. PMID: 28254235
Frohlich J, Senturk D, Saravanapandian V, Golshani P, Reiter LT, Sankar R, Thibert RL, DiStefano C, Huberty S, Cook EH, Jeste SS
PLoS One 2016;11(12):e0167179. Epub 2016 Dec 15 doi: 10.1371/journal.pone.0167179. PMID: 27977700Free PMC Article

Prognosis

Ververi A, Islam L, Bewes B, Busby L, Sullivan C, Canham N
Cytogenet Genome Res 2017;152(3):132-136. Epub 2017 Sep 13 doi: 10.1159/000480030. PMID: 28898887
Frohlich J, Senturk D, Saravanapandian V, Golshani P, Reiter LT, Sankar R, Thibert RL, DiStefano C, Huberty S, Cook EH, Jeste SS
PLoS One 2016;11(12):e0167179. Epub 2016 Dec 15 doi: 10.1371/journal.pone.0167179. PMID: 27977700Free PMC Article
Coppola A, Ruosi P, Santulli L, Striano S, Zara F, Striano P, Sisodiya SM
Eur J Med Genet 2013 Nov;56(11):614-8. Epub 2013 Sep 25 doi: 10.1016/j.ejmg.2013.08.008. PMID: 24075935

Clinical prediction guides

Copping NA, Christian SGB, Ritter DJ, Islam MS, Buscher N, Zolkowska D, Pride MC, Berg EL, LaSalle JM, Ellegood J, Lerch JP, Reiter LT, Silverman JL, Dindot SV
Hum Mol Genet 2017 Oct 15;26(20):3995-4010. doi: 10.1093/hmg/ddx289. PMID: 29016856Free PMC Article
Frohlich J, Senturk D, Saravanapandian V, Golshani P, Reiter LT, Sankar R, Thibert RL, DiStefano C, Huberty S, Cook EH, Jeste SS
PLoS One 2016;11(12):e0167179. Epub 2016 Dec 15 doi: 10.1371/journal.pone.0167179. PMID: 27977700Free PMC Article
Parikshak NN, Swarup V, Belgard TG, Irimia M, Ramaswami G, Gandal MJ, Hartl C, Leppa V, Ubieta LT, Huang J, Lowe JK, Blencowe BJ, Horvath S, Geschwind DH
Nature 2016 Dec 15;540(7633):423-427. Epub 2016 Dec 5 doi: 10.1038/nature20612. PMID: 27919067
Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ
Am J Hum Genet 2016 Sep 1;99(3):555-566. Epub 2016 Aug 25 doi: 10.1016/j.ajhg.2016.06.032. PMID: 27569549Free PMC Article
Saxena S, Gowdhaman K, Kkani P, Vennapusa B, Rama Subramanian C, Ganesh Kumar S, Mohan KN
Clin Chim Acta 2015 Oct 23;450:19-24. Epub 2015 Jul 31 doi: 10.1016/j.cca.2015.07.028. PMID: 26234520

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