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13q partial monosomy syndrome

MedGen UID:
120541
•Concept ID:
C0265451
•
Disease or Syndrome
Synonym: Partial deletion of the long arm of chromosome 13
SNOMED CT: 13q partial monosomy syndrome (29257000); Orbeli syndrome (29257000); 13q minus syndrome (29257000)
 
Monarch Initiative: MONDO:0016911
Orphanet: ORPHA262101

Definition

A rare syndrome that is characterized by the partial deletion of the long arm of chromosome 13. Signs and symptoms include low birth weight, craniofacial malformations, hands and feet malformations, and mental and psychomotor retardation. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV13q partial monosomy syndrome

Professional guidelines

PubMed

Retinoblastoma management in 13q deletion syndrome patients using super-selective chemotherapies and other cancer-directed interventions.
Cobbs LV, Francis JH, Dunkel IJ, Gobin YP, Brodie SE, Abramson DH
Pediatr Blood Cancer 2021 May;68(5):e28845. Epub 2020 Dec 23 doi: 10.1002/pbc.28845. PMID: 33355996Free PMC Article
BCL2 and miR-15/16: from gene discovery to treatment.
Pekarsky Y, Balatti V, Croce CM
Cell Death Differ 2018 Jan;25(1):21-26. Epub 2017 Oct 6 doi: 10.1038/cdd.2017.159. PMID: 28984869Free PMC Article
Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.
Quélin C, Bendavid C, Dubourg C, de la Rochebrochard C, Lucas J, Henry C, Jaillard S, Loget P, Loeuillet L, Lacombe D, Rival JM, David V, Odent S, Pasquier L
Eur J Med Genet 2009 Jan-Feb;52(1):41-6. Epub 2008 Oct 31 doi: 10.1016/j.ejmg.2008.10.002. PMID: 19022413

Recent clinical studies

Etiology

The Heterogeneity of 13q Deletions in Chronic Lymphocytic Leukemia: Diagnostic Challenges and Clinical Implications.
Xia C, Liu G, Liu J, Ronaghy A, Tadros S, Wang W, Fang H, Zhang S, Khoury JD, Tang Z
Genes (Basel) 2025 Feb 22;16(3) doi: 10.3390/genes16030252. PMID: 40149404Free PMC Article
Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype-A case report and literature review.
Pi X, Zhang Q, Wang X, Jiang F
Mol Genet Genomic Med 2024 Mar;12(3):e2414. doi: 10.1002/mgg3.2414. PMID: 38465842Free PMC Article
Retinoblastoma management in 13q deletion syndrome patients using super-selective chemotherapies and other cancer-directed interventions.
Cobbs LV, Francis JH, Dunkel IJ, Gobin YP, Brodie SE, Abramson DH
Pediatr Blood Cancer 2021 May;68(5):e28845. Epub 2020 Dec 23 doi: 10.1002/pbc.28845. PMID: 33355996Free PMC Article
Retinoblastoma.
Ortiz MV, Dunkel IJ
J Child Neurol 2016 Feb;31(2):227-36. Epub 2015 May 28 doi: 10.1177/0883073815587943. PMID: 26023180
Brain abnormalities on MR imaging in patients with retinoblastoma.
Rodjan F, de Graaf P, Moll AC, Imhof SM, Verbeke JI, Sanchez E, Castelijns JA
AJNR Am J Neuroradiol 2010 Sep;31(8):1385-9. Epub 2010 Apr 22 doi: 10.3174/ajnr.A2102. PMID: 20413604Free PMC Article

Diagnosis

The Heterogeneity of 13q Deletions in Chronic Lymphocytic Leukemia: Diagnostic Challenges and Clinical Implications.
Xia C, Liu G, Liu J, Ronaghy A, Tadros S, Wang W, Fang H, Zhang S, Khoury JD, Tang Z
Genes (Basel) 2025 Feb 22;16(3) doi: 10.3390/genes16030252. PMID: 40149404Free PMC Article
Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature.
Kotani T, Tsuda H, Ito Y, Nakamura N, Ushida T, Imai K, Iitani Y, Fuma K, Muramatsu Y, Hayakawa M, Kajiyama H
J Med Case Rep 2022 Dec 27;16(1):481. doi: 10.1186/s13256-022-03713-z. PMID: 36572904Free PMC Article
A rare unbalanced translocation (trisomy 5q33.3-qter, monosomy 13q34-qter) results in growth hormone deficiency and brain anomalies.
Joynt ACM, Deshwar AR, Zon J, Dupuis L, Wherrett DK, Mendoza-Londono R
Mol Genet Genomic Med 2021 Nov;9(11):e1821. Epub 2021 Oct 8 doi: 10.1002/mgg3.1821. PMID: 34623774Free PMC Article
Retinoblastoma.
Ortiz MV, Dunkel IJ
J Child Neurol 2016 Feb;31(2):227-36. Epub 2015 May 28 doi: 10.1177/0883073815587943. PMID: 26023180
Chromosome analysis using spectral karyotyping (SKY).
Imataka G, Arisaka O
Cell Biochem Biophys 2012 Jan;62(1):13-7. doi: 10.1007/s12013-011-9285-2. PMID: 21948110Free PMC Article

Therapy

BCL2 and miR-15/16: from gene discovery to treatment.
Pekarsky Y, Balatti V, Croce CM
Cell Death Differ 2018 Jan;25(1):21-26. Epub 2017 Oct 6 doi: 10.1038/cdd.2017.159. PMID: 28984869Free PMC Article
Patients with retinoblastoma and chromosome 13q deletions have increased chemotherapy-related toxicities.
Brennan RC, Qaddoumi I, Billups CA, Kaluzny T, Furman WL, Wilson MW
Pediatr Blood Cancer 2016 Nov;63(11):1954-8. Epub 2016 Jul 13 doi: 10.1002/pbc.26138. PMID: 27409525Free PMC Article
Generation of induced pluripotent stem cells derived from primary and secondary myelofibrosis patient samples.
Hosoi M, Kumano K, Taoka K, Arai S, Kataoka K, Ueda K, Kamikubo Y, Takayama N, Otsu M, Eto K, Nakauchi H, Kurokawa M
Exp Hematol 2014 Sep;42(9):816-25. Epub 2014 May 20 doi: 10.1016/j.exphem.2014.03.010. PMID: 24859480
Risk stratification in multiple myeloma, part 2: the significance of genetic risk factors in the era of currently available therapies.
Biran N, Jagannath S, Chari A
Clin Adv Hematol Oncol 2013;11(9):578-83. PMID: 24518521
Dasatinib-responsive chronic lymphocytic leukemia in a patient treated for coexisting chronic myeloid leukemia.
Nagao T, Takahashi N, Kameoka Y, Noguchi S, Shinohara Y, Ohyagi H, Kume M, Sawada K
Intern Med 2013;52(22):2567-71. doi: 10.2169/internalmedicine.52.0392. PMID: 24240798

Prognosis

The Heterogeneity of 13q Deletions in Chronic Lymphocytic Leukemia: Diagnostic Challenges and Clinical Implications.
Xia C, Liu G, Liu J, Ronaghy A, Tadros S, Wang W, Fang H, Zhang S, Khoury JD, Tang Z
Genes (Basel) 2025 Feb 22;16(3) doi: 10.3390/genes16030252. PMID: 40149404Free PMC Article
Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype-A case report and literature review.
Pi X, Zhang Q, Wang X, Jiang F
Mol Genet Genomic Med 2024 Mar;12(3):e2414. doi: 10.1002/mgg3.2414. PMID: 38465842Free PMC Article
Patients with retinoblastoma and chromosome 13q deletions have increased chemotherapy-related toxicities.
Brennan RC, Qaddoumi I, Billups CA, Kaluzny T, Furman WL, Wilson MW
Pediatr Blood Cancer 2016 Nov;63(11):1954-8. Epub 2016 Jul 13 doi: 10.1002/pbc.26138. PMID: 27409525Free PMC Article
Retinoblastoma.
Ortiz MV, Dunkel IJ
J Child Neurol 2016 Feb;31(2):227-36. Epub 2015 May 28 doi: 10.1177/0883073815587943. PMID: 26023180
The clinical characteristics and prognosis of IGH deletion in multiple myeloma.
He H, Fu W, Jiang H, Du J, Zhou L, Zhang C, Xi H, Li R, Hou J
Leuk Res 2015 May;39(5):515-9. Epub 2015 Mar 18 doi: 10.1016/j.leukres.2015.02.010. PMID: 25817540

Clinical prediction guides

The Heterogeneity of 13q Deletions in Chronic Lymphocytic Leukemia: Diagnostic Challenges and Clinical Implications.
Xia C, Liu G, Liu J, Ronaghy A, Tadros S, Wang W, Fang H, Zhang S, Khoury JD, Tang Z
Genes (Basel) 2025 Feb 22;16(3) doi: 10.3390/genes16030252. PMID: 40149404Free PMC Article
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay.
Privitera F, Calonaci A, Doddato G, Papa FT, Baldassarri M, Pinto AM, Mari F, Longo I, Caini M, Galimberti D, Hadjistilianou T, De Francesco S, Renieri A, Ariani F
Genes (Basel) 2021 Aug 26;12(9) doi: 10.3390/genes12091318. PMID: 34573300Free PMC Article
EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.
Lévy J, Haye D, Marziliano N, Casu G, Guimiot F, Dupont C, Teissier N, Benzacken B, Gressens P, Pipiras E, Verloes A, Tabet AC
Clin Genet 2018 Jun;93(6):1141-1147. Epub 2018 Mar 15 doi: 10.1111/cge.13234. PMID: 29508392
Chromosome 13q deletion syndrome involving 13q31‑qter: A case report.
Wang YP, Wang DJ, Niu ZB, Cui WT
Mol Med Rep 2017 Jun;15(6):3658-3664. Epub 2017 Apr 3 doi: 10.3892/mmr.2017.6425. PMID: 28393221Free PMC Article
A NEW OBSERVATION OF 13q DELETION SYNDROME: SEVERE UNDESCRIBED FEATURES.
Garcia-Rodriguez E, Garcia-Garcia E, Perez-Sanchez A, Pavon-Delgado A
Genet Couns 2015;26(2):213-7. PMID: 26349191

Recent systematic reviews

First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review.
Manolakos E, Peitsidis P, Garas A, Vetro A, Eleftheriades M, Petersen MB, Papoulidis I
Clin Exp Obstet Gynecol 2012;39(1):118-21. PMID: 22675970

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