51:
196:, such as problems with communication and social interactions, obsessional interests (often with interactive mechanisms like wheels, doors or switches), unpredictable sleep cycles (and a reduced need for sleep), and repetitive and stereotyped behaviors (e.g., lining up toys, playing with a toy in the same manner over and over again, hand flapping, rocking back and forth). Sensory processing is often affected, especially the vestibular system. A high pain threshold is often observed. If speech develops, it is often
366:
101:, is made up of a piece of chromosome 15 that has been duplicated end-to-end like a mirror image. It is the presence of this extra genetic material that is thought to account for the symptoms seen in some people with idic(15). Individuals with idic(15) have a total of four copies of this chromosome 15 region instead of the usual two copies (1 copy each on the
335:, and its effects on brain development began taking place long before the child was born. Therapies are available to help address many of the symptoms associated with idic(15). Physical, occupational, and speech therapies along with special education techniques can stimulate children with idic(15) to develop to their full potential.
135:), some cells are completely normal with 46 chromosomes. Occasionally, cells may have more than one idic(15), resulting in 48 or 49 chromosomes in all or some of their cells. A similar clinical picture albeit to a milder degree could be expected in individuals that have the extra chromosome 15 material as an
220:; cases with maternally derived idic(15) usually have clinical findings and attract attention, but those with paternally derived idic(15) usually do not. Thus, diagnosed cases are usually patients where the duplicated material is derived from the mother's egg cell rather than the father's sperm cell.
338:
In terms of medical management of the symptoms associated with
Chromosome 15q11.2-q13.1 Duplication Syndrome, families should be aware that individuals with chromosome 15 duplications may tolerate medications differently and may be more sensitive to side effects for some classes of medications, such
321:
given to the family. If the abnormality is found prenatally and one of the parents harbour the marker, the child has a chance of not carrying the mutation. Further tests should however be done to prove the marker has not been rearranged while being inherited. This information is also necessary for
389:
and their collaborators within the network of national Dup15q clinics. This group of researchers found that beta activity in children with Dup15q syndrome is significantly greater than that observed in (1) healthy, typically developing children of the same age and (2) children of the same age and
356:
About half of all 'marker' chromosomes are idic(15) but idic(15) in itself is one of the rare chromosome abnormalities. Incidence at birth appears to be 1 in 30,000 with a sex ratio of almost 1:1; however, since dysmorphic features are absent or subtle and major malformations are rare, chromosome
279:
A recent study reported the introduction of two extra copies of just a single gene present in the 15q11.2-q13.1 region, Ube3a, into mice to model the gene copy number expressed in the brain in idic(15). These mice displayed autism-related behavioral deficits including impaired social interaction,
300:
can be used to determine the gene content and magnitude of copy number variation so that the clinical picture can be foreseen. Interstitial duplications of chromosome 15 can be more difficult to detect on a routine chromosome analysis but are clearly identifiable using a 15q FISH study. Families
275:
markers from the (15q1.2-q13.1) region were found more often in individuals with autism than in individuals without autism. Although these DNA markers are too small to be genes, they suggest that researchers may be getting close to finding an autism gene in this region.
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357:
analysis may not be thought to be indicated, and some individuals, particularly in the older age groups, probably remain undiagnosed. There are organizations for families with idic(15) children that offer extensive information and support.
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type medications (SSRI). Thus, these should be used with caution and any new medication should be instituted in a controlled setting, with slow titration of levels and with a clear endpoint as to what the expected outcome for treatment is.
236:. The smallest markers appear to be harmless and they may go undetected. However, if they are large enough to contain a number of important genes, they may result in "idic(15) syndrome" which is characterized by learning disabilities,
330:
At the present time, there is no specific treatment that can undo any chromosomal abnormality, nor the genetic pattern seen in people with idic(15). The extra chromosomal material in those affected was present at or shortly after
155:
The severity of symptoms of idic(15) vary greatly between individuals. Individuals with idic(15) usually have delays in language development and motor skills such as walking or sitting up. Other traits may include low muscle tone
227:
or an extra structurally abnormal chromosome (ESAC). The marker usually exists as an isodicentric chromosome; i.e. 2 copies of a specific part of the long arm of chromosome 15q11.2-q13.1 that is mirrored and doubled, with 2
347:
There is an increased risk of sudden, unexpected death among children and adults with this syndrome. The full cause is not yet understood but it is generally attributed to SUDEP (Sudden
Unexplained Death in Epilepsy).
963:
Schanen, C: Research update on chromosome 15 duplications β idic(15) and interstitial duplications: The duplication 15q syndrome. Presentation at 2005 International
Conference on Isodicentric 15 and Related
264:). It is suggested that the co-occurrence of autism and idic(15) is not by chance. There may be a gene or genes in the 15q11-q13 region that is/are related to the development of autism in some individuals.
256:
For more than 12 years, scientists have noticed that some individuals with autism also have idic(15). In fact, idic(15) is the most frequently identified chromosome problem in individuals with
682:"IDEAS - Isodicentric 15 | Welcome to IDEAS: IsoDicentric 15 Exchange Advocacy and Support | Support and Advocacy for duplication 15q syndrome: IDIC15, IDIC(15), Interstitial d..."
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frequency (12β30 Hz) oscillations. This EEG signature was first noted as a qualitative pattern in clinical EEG readings and was later described quantitatively by researchers at the
369:
Spontaneous EEG recordings (right) from a 28-month-old child with idic(15) show diffuse beta frequency oscillations that represent an EEG signature of idic(15) and Dup15q.
223:
People with idic(15) have extra genetic material that has developed from chromosome 15. The material usually exists as a little extra chromosome 15; sometimes called a
1120:
124:(mainly in the United States). Dup15q Syndrome includes both idic(15) and interstitial 15q11.2-q13.1, another type of duplication that causes similar clinical traits.
488:
917:"High-resolution molecular characterization of 15q11βq13 rearrangements by array comparative genomic hybridization (array CGH) with detection of gene dosage"
699:
Luchsinger, Kadi; Lau, Heather; Hedlund, Julie L; Friedman, Daniel; Krushel, Kara; Devinsky, Orrin (2016). "Parental-reported pain insensitivity in Dup15q".
131:
state, i.e. some of the cells carry the marker chromosome. However, mostly because of the marker's instability and tendency to be lost during cell division (
97:. People with idic(15) are typically born with 47 chromosomes in their body cells, instead of the normal 46. The extra chromosome, which is classified as a
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394:
with autism not caused by a known genetic disorder (i.e., nonsyndromic ASD). The EEG signature appears almost identical to beta oscillations induced by
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and other neurological symptoms. One of the regions responsible for the symptoms of idic(15) syndrome is the critical PWS/AS-region named after the
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69:
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RJ McKinlay
Gardner, Grant R. Sutherland. Chromosome Abnormalities and Genetic Counseling, 3rd Ed, Oxford University Press, New York 2004.
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found on 15q11.2-q13.1. Treatment monitoring and identification of molecular disease mechanisms may be facilitated by this biomarker.
790:
293:
555:"Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from inv dup(15)"
1061:, Saravanapandian V., Golshani P., Reiter L.T., Sankar R., Thibert R.L., DiStefano C., Huberty S., Cook E.H., Jeste S.S. (2016).
806:
143:
the long arm of one of the two copies of chromosome 15, rather than as a small extra 'marker' chromosome) - often abbreviated to
189:
212:, in one member of the family, by chance. In most cases, the abnormal chromosome is generated in the mother's germ cells: the
109:
chromosomes). The term isodicentric refers to a duplication and inversion of a centromere-containing chromosomal segment.
184:(roof of the mouth). Some individuals show other signs that can often be associated with chromosomal conditions, such as
340:
200:
but some individuals do grasp some language. With a severely affected person there may be an inability to walk or talk.
168:. Distinctive facial features associated with idic(15) - where present at all - are usually very subtle but may include
502:
Jafari-Ghahfarokhi H, Moradi-Chaleshtori M, Liehr T, Hashemzadeh-Chaleshtori M, Teimori H, Ghasemi-Dehkordi P (2015).
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but the parents must be karyotyped to make sure it is not inherited, mostly because this will affect the course of
742:
Cook E.H. Jr; Lindgren V.; Leventhal B.L.; Courchesne R.; Lincoln A.; Shulman C.; Lord C.; Courchesne E. (1997).
553:
Chen CP, Lin HY, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Fran S, Chen YY, Town DD, Pan CW, Wang W (July 2020).
1165:
843:"Increased Gene Dosage of Ube3a Results in Autism Traits and Decreased Glutamate Synaptic Transmission in Mice"
90:
50:
681:
260:. (A chromosome anomaly involves extra or missing chromosomal material, not changes within the genes such as
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296:) is used to confirm the diagnosis by distinguishing idic(15) from other supernumerary marker chromosomes.
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94:
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counseling of future pregnancies. Each family is unique and should therefore be handled individually.
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600:. Grant R. Sutherland, Lisa G. Shaffer (4th ed.). Oxford: Oxford University Press. p. 306.
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Genetic research studies of individuals without chromosome anomalies also support this idea that an
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271:-related gene may be present in 15q11.2-q13.1 Specifically, research studies found that certain
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744:"Autism or atypical autism in maternally but not paternally derived proximal 15q duplication"
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reduced ultrasonic vocal communication, and increased repetitive behavior (self-grooming).
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Smith, S. E. P.; Zhou, Y.-D.; Zhang, G.; Jin, Z.; Stoppel, D. C.; Anderson, M. P. (2011).
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1063:"A Quantitative Electrophysiological Biomarker of Duplication 15q11. 2-q13. 1 Syndrome"
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504:"Small supernumerary marker chromosomes and their correlation with specific syndromes"
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631:"The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.1"
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Condition caused by two joined and mirrored duplications of part of chromosome 15
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The extra chromosome in people with idic(15) can be easily detected through
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180:, broad forehead, a flattened nasal bridge, button nose, and a high arched
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An example of
Isodicentric 15. The steps between 4x, 3x and 2x can be seen.
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Hogart, Amber; Wu, David; Lasalle, Janine M.; Schanen, N. Carolyn (2008).
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should always discuss the results of chromosome and FISH studies with a
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891:"Science Translational Medicine: Making Mice with Autistic Behavior"
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Patients with idic(15) and int dup(15) often feature a distinctive
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or other genetics professionals to ensure accurate interpretation.
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at the inner corners of one or both eyes), downward slanting
292:(karyotyping). Additional tests are usually required. FISH (
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Generally, idic(15) is not inherited; it is said to appear
93:
in which a child is born with extra genetic material from
1005:"The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)"
915:
Wang N.J.; Liu D.; Parokonny A.S.; Schanen N.C. (2004).
192:. Many individuals with idic(15) display features of
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139:(when the extra piece of chromosome 15 is included
112:The syndrome is also often referred to by the term
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35:
127:The extra chromosome is occasionally found in the
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779:
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559:Taiwanese Journal of Obstetrics & Gynecology
597:Chromosome abnormalities and genetic counseling
147:; the individual thus having 46 chromosomes.
114:Chromosome 15q11.2-q13.1 Duplication Syndrome
8:
1119:: CS1 maint: multiple names: authors list (
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381:in the form of high amplitude spontaneous
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459:"Orphanet: Duplication/inversion 15q11"
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826:: CS1 maint: archived copy as title (
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387:University of California, Los Angeles
252:Isodicentric chromosome 15 and autism
99:small supernumerary marker chromosome
7:
457:RESERVED, INSERM US14-- ALL RIGHTS.
469:from the original on 30 April 2018
25:
294:Fluorescent in situ hybridization
897:from the original on 2013-12-03
809:from the original on 2010-03-05
190:single transverse palmar crease
188:, or a unilateral or bilateral
1217:Genetic disorders with no OMIM
977:. 8 April 2014. Archived from
847:Science Translational Medicine
164:(>50%), short stature, and
1:
975:"Physician Advisory - Dup15q"
438:marker chromosome 15 syndrome
122:marker chromosome 15 syndrome
70:marker chromosome 15 syndrome
1088:10.1371/journal.pone.0167179
859:10.1126/scitranslmed.3002627
508:Advanced Biomedical Research
341:serotonin reuptake inhibitor
313:In general, idic(15) occurs
713:10.1016/j.yebeh.2015.10.007
44:Non-telomeric tetrasomy 15q
1233:
594:Gardner, R. J. M. (2012).
572:10.1016/j.tjog.2020.05.019
647:10.1016/j.nbd.2008.08.011
216:. This finding is due to
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48:
521:10.4103/2277-9175.161542
137:interstitial duplication
701:Epilepsy & Behavior
635:Neurobiology of Disease
166:intellectual disability
83:inverted duplication 15
1022:10.1186/1750-1172-3-30
375:electroencephalography
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91:chromosome abnormality
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79:partial tetrasomy 15q
1003:Battaglia A (2008).
398:drugs that modulate
1079:2016PLoSO..1167179F
1009:Orphanet J Rare Dis
377:(EEG) signature or
290:chromosome analysis
1181:External resources
981:on 17 October 2017
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319:genetic counseling
262:Fragile X syndrome
218:ascertainment bias
178:palpebral fissures
151:Signs and symptoms
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921:Am. J. Hum. Genet
748:Am. J. Hum. Genet
607:978-0-19-974915-7
303:genetic counselor
225:marker chromosome
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30:Medical condition
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118:Dup15q Syndrome
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248:syndromes.
230:centromeres
145:int dup(15)
41:Other names
1059:Senturk D.
985:17 October
964:Disorders.
901:2012-03-22
813:2010-04-04
444:References
333:conception
326:Management
174:skin folds
87:inv dup 15
707:: 124β7.
616:769344040
404:receptors
379:biomarker
309:Screening
298:Array CGH
284:Diagnosis
198:echolalic
158:hypotonia
1211:Category
1190:Orphanet
1107:27977700
1067:PLOS ONE
1041:19019226
951:15197683
895:Archived
877:21974935
822:cite web
807:Archived
729:32626204
721:26773682
665:18840528
581:32653133
540:26322288
483:cite web
467:Archived
432:See also
361:Research
246:Angelman
204:Genetics
162:seizures
107:paternal
103:maternal
89:), is a
75:idic(15)
1171:C580205
1161:: Q99.8
1098:5157977
1075:Bibcode
1032:2613132
942:1216061
868:3356696
770:9106540
761:1712464
656:2884398
531:4544121
514:: 140.
339:as the
315:de novo
244:and/or
214:oocytes
210:de novo
133:mitosis
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