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Duplication/inversion 15q11

MedGen UID:
777984
Concept ID:
C3711376
Disease or Syndrome
Synonyms: Duplication-Inversion 15q11; Idic(15); Inv Dup(15); Inverted Duplication 15; Isodicentric Chromosome 15; Isodicentric Chromosome 15 Syndrome; Non-Distal Tetrasomy 15q
SNOMED CT: Isodicentric chromosome 15 syndrome (723332005); Duplication/inversion 15q11 (723332005); Isodicentric 15 chromosome (723332005); Inverted duplication 15 (723332005); Non-distal tetrasomy 15q (723332005)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0018027
Orphanet: ORPHA3306

Definition

A chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior. Facial dysmorphism is absent or subtle and major malformations are rare. The syndrome is usually sporadic and not inherited and results from an abnormal extra chromosome in each cell containing mirror-image segments of genetic material. The isodicentric chromosome is made up of two extra copies of a segment of genetic material from chromosome 15, which is attached end-to-end. Typically this copied genetic material includes a region of the chromosome called 15q11-q13. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDuplication/inversion 15q11

Recent clinical studies

Etiology

El Fekih S, Gueganic N, Tous C, Douet-Guilbert N, Blesson S, Morel F, Perrin A
Cytogenet Genome Res 2022;162(1-2):34-39. Epub 2022 Apr 7 doi: 10.1159/000523916. PMID: 35390789
Matricardi S, Darra F, Spalice A, Basti C, Fontana E, Dalla Bernardina B, Elia M, Giordano L, Accorsi P, Cusmai R, De Liso P, Romeo A, Ragona F, Granata T, Concolino D, Carotenuto M, Pavone P, Pruna D, Striano P, Savasta S, Verrotti A
Acta Neurol Scand 2018 Jun;137(6):575-581. Epub 2018 Jan 23 doi: 10.1111/ane.12902. PMID: 29363096
Battaglia A, Bernardini L, Torrente I, Novelli A, Scarselli G
Am J Med Genet A 2016 Oct;170(10):2531-9. Epub 2016 Aug 11 doi: 10.1002/ajmg.a.37844. PMID: 27513709
Friedman D, Thaler A, Thaler J, Rai S, Cook E, Schanen C, Devinsky O
Epilepsy Behav 2016 Aug;61:1-5. Epub 2016 May 21 doi: 10.1016/j.yebeh.2016.04.001. PMID: 27218684

Diagnosis

Chen CP, Lin HY, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Fran S, Chen YY, Town DD, Pan CW, Wang W
Taiwan J Obstet Gynecol 2020 Jul;59(4):580-585. doi: 10.1016/j.tjog.2020.05.019. PMID: 32653133
Matricardi S, Darra F, Spalice A, Basti C, Fontana E, Dalla Bernardina B, Elia M, Giordano L, Accorsi P, Cusmai R, De Liso P, Romeo A, Ragona F, Granata T, Concolino D, Carotenuto M, Pavone P, Pruna D, Striano P, Savasta S, Verrotti A
Acta Neurol Scand 2018 Jun;137(6):575-581. Epub 2018 Jan 23 doi: 10.1111/ane.12902. PMID: 29363096
Verrotti A, Sertorio F, Matricardi S, Ferrara P, Striano P
Seizure 2017 Apr;47:87-91. Epub 2017 Mar 9 doi: 10.1016/j.seizure.2017.03.006. PMID: 28343008
Battaglia A, Bernardini L, Torrente I, Novelli A, Scarselli G
Am J Med Genet A 2016 Oct;170(10):2531-9. Epub 2016 Aug 11 doi: 10.1002/ajmg.a.37844. PMID: 27513709
Nonaka T, Ooki I, Enomoto T, Takakuwa K
J Obstet Gynaecol Res 2014 Jun;40(6):1795-8. doi: 10.1111/jog.12401. PMID: 24888951

Therapy

Battaglia A, Bernardini L, Torrente I, Novelli A, Scarselli G
Am J Med Genet A 2016 Oct;170(10):2531-9. Epub 2016 Aug 11 doi: 10.1002/ajmg.a.37844. PMID: 27513709
Friedman D, Thaler A, Thaler J, Rai S, Cook E, Schanen C, Devinsky O
Epilepsy Behav 2016 Aug;61:1-5. Epub 2016 May 21 doi: 10.1016/j.yebeh.2016.04.001. PMID: 27218684

Prognosis

Verrotti A, Sertorio F, Matricardi S, Ferrara P, Striano P
Seizure 2017 Apr;47:87-91. Epub 2017 Mar 9 doi: 10.1016/j.seizure.2017.03.006. PMID: 28343008
Battaglia A, Bernardini L, Torrente I, Novelli A, Scarselli G
Am J Med Genet A 2016 Oct;170(10):2531-9. Epub 2016 Aug 11 doi: 10.1002/ajmg.a.37844. PMID: 27513709
Friedman D, Thaler A, Thaler J, Rai S, Cook E, Schanen C, Devinsky O
Epilepsy Behav 2016 Aug;61:1-5. Epub 2016 May 21 doi: 10.1016/j.yebeh.2016.04.001. PMID: 27218684

Clinical prediction guides

Nonaka T, Ooki I, Enomoto T, Takakuwa K
J Obstet Gynaecol Res 2014 Jun;40(6):1795-8. doi: 10.1111/jog.12401. PMID: 24888951

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