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13q partial monosomy syndrome

MedGen UID:
120541
•Concept ID:
C0265451
•
Disease or Syndrome
Synonyms: Orbeli syndrome; Orbeli's syndrome; 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

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
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
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
Myeloproliferative disorders.
Bench AJ, Cross NC, Huntly BJ, Nacheva EP, Green AR
Best Pract Res Clin Haematol 2001 Sep;14(3):531-51. doi: 10.1053/beha.2001.0153. PMID: 11640868

Diagnosis

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
Characterization of CD34-deficient myofibroblastomas of the breast.
D'Alfonso TM, Subramaniyam S, Ginter PS, Mosquera JM, Croyle J, Liu YF, Rubin MA, Shin SJ
Breast J 2018 Jan;24(1):55-61. Epub 2017 May 30 doi: 10.1111/tbj.12835. PMID: 28557150
Retinoblastoma.
Ortiz MV, Dunkel IJ
J Child Neurol 2016 Feb;31(2):227-36. Epub 2015 May 28 doi: 10.1177/0883073815587943. PMID: 26023180
Myeloproliferative disorders.
Bench AJ, Cross NC, Huntly BJ, Nacheva EP, Green AR
Best Pract Res Clin Haematol 2001 Sep;14(3):531-51. doi: 10.1053/beha.2001.0153. PMID: 11640868
Molecular genetics and cytogenetics of myeloproliferative disorders.
Bench AJ, Nacheva EP, Champion KM, Green AR
Baillieres Clin Haematol 1998 Dec;11(4):819-48. doi: 10.1016/s0950-3536(98)80041-3. PMID: 10640219

Therapy

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
Recent advances in trigonocephaly.
Mocquard C, Aillet S, Riffaud L
Neurochirurgie 2019 Nov;65(5):246-251. Epub 2019 Sep 27 doi: 10.1016/j.neuchi.2019.09.014. PMID: 31568780
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
Neoplasia of early life and its relationships to teratogenesis.
Bolande RP
Perspect Pediatr Pathol 1976;3:145-83. PMID: 184428

Prognosis

Cytogenetic Abnormalities in Multiple Myeloma Patients at a Tertiary Healthcare Center in India.
Govindasamy P, Pandurangan P, Tarigopula A, Mani R, R Samuel C
Asian Pac J Cancer Prev 2019 Jan 25;20(1):235-241. doi: 10.31557/APJCP.2019.20.1.235. PMID: 30678438Free 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
Myeloproliferative disorders.
Bench AJ, Cross NC, Huntly BJ, Nacheva EP, Green AR
Best Pract Res Clin Haematol 2001 Sep;14(3):531-51. doi: 10.1053/beha.2001.0153. PMID: 11640868

Clinical prediction guides

Recent advances in trigonocephaly.
Mocquard C, Aillet S, Riffaud L
Neurochirurgie 2019 Nov;65(5):246-251. Epub 2019 Sep 27 doi: 10.1016/j.neuchi.2019.09.014. PMID: 31568780
Genomic and Clinicopathologic Features of Primary Myelofibrosis With Isolated 13q Deletion.
Mehrotra M, Patel KP, Chen T, Miranda RN, Wang Y, Zuo Z, Muddasani R, Mishra BM, Abraham R, Luthra R, Lu G
Clin Lymphoma Myeloma Leuk 2015 Aug;15(8):496-505.e1-2. Epub 2015 Apr 3 doi: 10.1016/j.clml.2015.03.018. PMID: 26027540
Genotype-phenotype correlations in patients with retinoblastoma and interstitial 13q deletions.
Mitter D, Ullmann R, Muradyan A, Klein-Hitpass L, Kanber D, Ounap K, Kaulisch M, Lohmann D
Eur J Hum Genet 2011 Sep;19(9):947-58. Epub 2011 Apr 20 doi: 10.1038/ejhg.2011.58. PMID: 21505449Free PMC Article
Molecular genetics and cytogenetics of myeloproliferative disorders.
Bench AJ, Nacheva EP, Champion KM, Green AR
Baillieres Clin Haematol 1998 Dec;11(4):819-48. doi: 10.1016/s0950-3536(98)80041-3. PMID: 10640219
Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns.
Higurashi M, Oda M, Iijima K, Iijima S, Takeshita T, Watanabe N, Yoneyama K
Brain Dev 1990;12(6):770-3. doi: 10.1016/s0387-7604(12)80004-0. PMID: 2092586

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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