U.S. flag

An official website of the United States government

We are planning the future of MedGen. Fill out this survey or email us at medgen_help@ncbi.nlm.nih.gov to tell us how it can work better for you.

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

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
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
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

Recent clinical studies

Etiology

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
Ortiz MV, Dunkel IJ
J Child Neurol 2016 Feb;31(2):227-36. Epub 2015 May 28 doi: 10.1177/0883073815587943. PMID: 26023180
Ishiyama K, Karasawa M, Miyawaki S, Ueda Y, Noda M, Wakita A, Sawanobori M, Nagai H, Nakao S
Br J Haematol 2002 Jun;117(3):747-50. doi: 10.1046/j.1365-2141.2002.03518.x. PMID: 12028052
Ketterling RP, Wyatt WA, VanWier SA, Law M, Hodnefield JM, Hanson CA, Dewald GW
Leuk Res 2002 Mar;26(3):235-40. doi: 10.1016/s0145-2126(01)00117-5. PMID: 11792411
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

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
Ortiz MV, Dunkel IJ
J Child Neurol 2016 Feb;31(2):227-36. Epub 2015 May 28 doi: 10.1177/0883073815587943. PMID: 26023180
Rodovalho-Doriqui MJ, Freitas PL, Pinho JD, Cavalli LR, Pereira SR
Genet Mol Res 2013 Jul 24;12(3):2562-6. doi: 10.4238/2013.July.24.7. PMID: 23979887
Imataka G, Arisaka O
Cell Biochem Biophys 2012 Jan;62(1):13-7. doi: 10.1007/s12013-011-9285-2. PMID: 21948110Free PMC Article
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

Therapy

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
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
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
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
Hon C, Chan GC, Ha SY, Ma SK, Wong KF, Au WY
Ann Hematol 2004 Jul;83(7):481-3. Epub 2004 May 11 doi: 10.1007/s00277-004-0884-5. PMID: 15170522

Prognosis

Ortiz MV, Dunkel IJ
J Child Neurol 2016 Feb;31(2):227-36. Epub 2015 May 28 doi: 10.1177/0883073815587943. PMID: 26023180
Trépant AL, Sibille C, Frunza AM, Simon P, Noël JC
Pathol Res Pract 2014 Jun;210(6):389-91. Epub 2014 Feb 23 doi: 10.1016/j.prp.2014.01.016. PMID: 24629658
Ishiyama K, Karasawa M, Miyawaki S, Ueda Y, Noda M, Wakita A, Sawanobori M, Nagai H, Nakao S
Br J Haematol 2002 Jun;117(3):747-50. doi: 10.1046/j.1365-2141.2002.03518.x. PMID: 12028052
Ketterling RP, Wyatt WA, VanWier SA, Law M, Hodnefield JM, Hanson CA, Dewald GW
Leuk Res 2002 Mar;26(3):235-40. doi: 10.1016/s0145-2126(01)00117-5. PMID: 11792411
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

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
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
Trépant AL, Sibille C, Frunza AM, Simon P, Noël JC
Pathol Res Pract 2014 Jun;210(6):389-91. Epub 2014 Feb 23 doi: 10.1016/j.prp.2014.01.016. PMID: 24629658
Yamamoto K, Ito M, Minagawa K, Urahama N, Sada A, Okamura A, Matsui T
Cancer Genet Cytogenet 2005 Oct 15;162(2):160-5. doi: 10.1016/j.cancergencyto.2005.03.020. PMID: 16213365
Ketterling RP, Wyatt WA, VanWier SA, Law M, Hodnefield JM, Hanson CA, Dewald GW
Leuk Res 2002 Mar;26(3):235-40. doi: 10.1016/s0145-2126(01)00117-5. PMID: 11792411

Recent systematic reviews

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    External link. Please review our privacy policy.