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Chromosome 15q24 deletion syndrome

MedGen UID:
462024
•Concept ID:
C3150674
•
Disease or Syndrome
Synonym: CHROMOSOME 15q24 DELETION SYNDROME
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Unknown inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0013256
OMIM®: 613406
Orphanet: ORPHA94065

Definition

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosome 15q24 deletion syndrome
Follow this link to review classifications for Chromosome 15q24 deletion syndrome in Orphanet.

Recent clinical studies

Etiology

Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China.
Wang R, Lei T, Fu F, Li R, Jing X, Yang X, Liu J, Li D, Liao C
Pediatr Neonatol 2019 Feb;60(1):35-42. Epub 2018 Mar 26 doi: 10.1016/j.pedneo.2018.03.006. PMID: 29631977
Chromosome 15q24 microdeletion syndrome.
Magoulas PL, El-Hattab AW
Orphanet J Rare Dis 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. PMID: 22216833Free PMC Article

Diagnosis

Refining critical regions in 15q24 microdeletion syndrome pertaining to autism.
Liu Y, Zhang Y, Zarrei M, Dong R, Yang X, Zhao D, Scherer SW, Gai Z
Am J Med Genet B Neuropsychiatr Genet 2020 Jun;183(4):217-226. Epub 2020 Jan 18 doi: 10.1002/ajmg.b.32778. PMID: 31953991
Chromosome 15q24 microdeletion syndrome.
Magoulas PL, El-Hattab AW
Orphanet J Rare Dis 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. PMID: 22216833Free PMC Article
Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE
J Med Genet 2012 Feb;49(2):110-8. Epub 2011 Dec 17 doi: 10.1136/jmedgenet-2011-100499. PMID: 22180641Free PMC Article
Myelodysplastic syndrome in a child with 15q24 deletion syndrome.
Narumi Y, Shiohara M, Wakui K, Hama A, Kojima S, Yoshikawa K, Amano Y, Kosho T, Fukushima Y
Am J Med Genet A 2012 Feb;158A(2):412-6. Epub 2011 Dec 2 doi: 10.1002/ajmg.a.34395. PMID: 22140075
Novel microdeletion syndromes detected by chromosome microarrays.
Slavotinek AM
Hum Genet 2008 Aug;124(1):1-17. Epub 2008 May 30 doi: 10.1007/s00439-008-0513-9. PMID: 18512078

Prognosis

Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review.
Liu Y, Mapow B
Mol Genet Genomic Med 2020 Jul;8(7):e1265. Epub 2020 May 13 doi: 10.1002/mgg3.1265. PMID: 32400031Free PMC Article
Chromosome 15q24 microdeletion syndrome.
Magoulas PL, El-Hattab AW
Orphanet J Rare Dis 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. PMID: 22216833Free PMC Article

Clinical prediction guides

Atopic dermatitis in 15q24 microdeletion syndrome: a social media study.
Deydier N, Salvado M, Planes M, Misery L, Abasq-Thomas C
Eur J Dermatol 2023 Apr 1;33(2):157-159. doi: 10.1684/ejd.2023.4455. PMID: 37431118
Coexistence of urogenital malformations in a female fetus with de novo 15q24 microdeletion and a literature review.
Liu Y, Mapow B
Mol Genet Genomic Med 2020 Jul;8(7):e1265. Epub 2020 May 13 doi: 10.1002/mgg3.1265. PMID: 32400031Free PMC Article
Refining critical regions in 15q24 microdeletion syndrome pertaining to autism.
Liu Y, Zhang Y, Zarrei M, Dong R, Yang X, Zhao D, Scherer SW, Gai Z
Am J Med Genet B Neuropsychiatr Genet 2020 Jun;183(4):217-226. Epub 2020 Jan 18 doi: 10.1002/ajmg.b.32778. PMID: 31953991
Chromosome 15q24 microdeletion syndrome.
Magoulas PL, El-Hattab AW
Orphanet J Rare Dis 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. PMID: 22216833Free PMC Article
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.
Klopocki E, Graul-Neumann LM, Grieben U, Tönnies H, Ropers HH, Horn D, Mundlos S, Ullmann R
Eur J Pediatr 2008 Aug;167(8):903-8. Epub 2007 Oct 12 doi: 10.1007/s00431-007-0616-7. PMID: 17932688Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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