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2q24 microdeletion syndrome

MedGen UID:
419168
•Concept ID:
C2931816
•
Cell or Molecular Dysfunction
Synonyms: Chromosome 2, monosomy 2q24; Deletion 2q24; Monosomy 2q24
SNOMED CT: 2q24 microdeletion syndrome (719658006); Monosomy 2q24 (719658006)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0015566
Orphanet: ORPHA1617

Definition

A chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 with clinical characteristics of a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • 2q24 microdeletion syndrome
Follow this link to review classifications for 2q24 microdeletion syndrome in Orphanet.

Recent clinical studies

Etiology

Epilepsy, EEG and chromosomal rearrangements.
Paprocka J, Coppola A, Cuccurullo C, Stawicka E, Striano P
Epilepsia Open 2024 Aug;9(4):1192-1232. Epub 2024 Jun 4 doi: 10.1002/epi4.12951. PMID: 38837855Free PMC Article
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
Boutry-Kryza N, Labalme A, Ville D, de Bellescize J, Touraine R, Prieur F, Dimassi S, Poulat AL, Till M, Rossi M, Bourel-Ponchel E, Delignières A, Le Moing AG, Rivier C, des Portes V, Edery P, Calender A, Sanlaville D, Lesca G
Eur J Med Genet 2015 Feb;58(2):51-8. Epub 2014 Dec 11 doi: 10.1016/j.ejmg.2014.11.007. PMID: 25497044
Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Costa T, Pashby R, Huggins M, Teshima IE
J Pediatr Ophthalmol Strabismus 1998 Sep-Oct;35(5):271-6. doi: 10.3928/0191-3913-19980901-06. PMID: 9782438

Diagnosis

Epilepsy, EEG and chromosomal rearrangements.
Paprocka J, Coppola A, Cuccurullo C, Stawicka E, Striano P
Epilepsia Open 2024 Aug;9(4):1192-1232. Epub 2024 Jun 4 doi: 10.1002/epi4.12951. PMID: 38837855Free PMC Article
Multiple copy number variation in a patient with Kleefstra syndrome.
Lee TN, Rechetello HEL, Lima Júnior JBA, Cornelio JPFF, Pegoraro NB, Raskin S, Mikami LR
Rev Paul Pediatr 2023;42:e2022230. Epub 2023 Sep 15 doi: 10.1590/1984-0462/2024/42/2022230. PMID: 37729241Free PMC Article
11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
Conrad S, Demurger F, Moradkhani K, Pichon O, Le Caignec C, Pascal C, Thomas C, Bayart S, Perlat A, Dubourg C, Jaillard S, Nizon M
Am J Med Genet A 2019 Jun;179(6):993-1000. Epub 2019 Mar 19 doi: 10.1002/ajmg.a.61113. PMID: 30888095
A 2q24.2 microdeletion containing TANK as novel candidate gene for intellectual disability.
Karoglan A, Schanze D, Bär C, Muschke P, Zenker M, Schanze I
Am J Med Genet A 2019 May;179(5):832-836. Epub 2019 Feb 25 doi: 10.1002/ajmg.a.61093. PMID: 30803155
Delineating the 17q24.2-q24.3 microdeletion syndrome phenotype.
Lestner JM, Ellis R, Canham N
Eur J Med Genet 2012 Dec;55(12):700-4. Epub 2012 Aug 24 doi: 10.1016/j.ejmg.2012.08.003. PMID: 22982078

Prognosis

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
Boutry-Kryza N, Labalme A, Ville D, de Bellescize J, Touraine R, Prieur F, Dimassi S, Poulat AL, Till M, Rossi M, Bourel-Ponchel E, Delignières A, Le Moing AG, Rivier C, des Portes V, Edery P, Calender A, Sanlaville D, Lesca G
Eur J Med Genet 2015 Feb;58(2):51-8. Epub 2014 Dec 11 doi: 10.1016/j.ejmg.2014.11.007. PMID: 25497044
Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).
Costa T, Pashby R, Huggins M, Teshima IE
J Pediatr Ophthalmol Strabismus 1998 Sep-Oct;35(5):271-6. doi: 10.3928/0191-3913-19980901-06. PMID: 9782438

Clinical prediction guides

Epilepsy, EEG and chromosomal rearrangements.
Paprocka J, Coppola A, Cuccurullo C, Stawicka E, Striano P
Epilepsia Open 2024 Aug;9(4):1192-1232. Epub 2024 Jun 4 doi: 10.1002/epi4.12951. PMID: 38837855Free PMC Article
11q24.2q24.3 microdeletion in two families presenting features of Jacobsen syndrome, without intellectual disability: Role of FLI1, ETS1, and SENCR long noncoding RNA.
Conrad S, Demurger F, Moradkhani K, Pichon O, Le Caignec C, Pascal C, Thomas C, Bayart S, Perlat A, Dubourg C, Jaillard S, Nizon M
Am J Med Genet A 2019 Jun;179(6):993-1000. Epub 2019 Mar 19 doi: 10.1002/ajmg.a.61113. PMID: 30888095
Association of 17q24.2-q24.3 deletions with recognizable phenotype and short telomeres.
Hancarova M, Malikova M, Kotrova M, Drabova J, Trkova M, Sedlacek Z
Am J Med Genet A 2018 Jun;176(6):1438-1442. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38711. PMID: 29696806
Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient.
Shimojima K, Okamoto N, Yamamoto T
Congenit Anom (Kyoto) 2017 Jul;57(4):109-113. Epub 2017 Mar 22 doi: 10.1111/cga.12205. PMID: 27957763

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