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3p partial monosomy syndrome

MedGen UID:
167067
•Concept ID:
C0795806
•
Cell or Molecular Dysfunction
Synonyms: Chromosome 3, deletion 3p; Chromosome 3, monosomy 3p; Deletion 3p; Monosomy 3p
SNOMED CT: Chromosome 3p deletion syndrome (449819002); 3p partial monosomy syndrome (449819002)

Definition

Deletion of the short arm of chromosome 3 with variable anomalies which include growth failure, psychomotor retardation, craniofacial deformities with unusual facies, postaxial polydactyly, musculoskeletal defects, and other malformations. [from MCA/MR]

Professional guidelines

PubMed

Comparison of real-world treatment patterns in chronic lymphocytic leukemia management before and after availability of ibrutinib in the province of British Columbia, Canada.
Huang SJ, Gerrie AS, Young S, Tucker T, Bruyere H, Hrynchak M, Galbraith P, Al Tourah AJ, Dueck G, Noble MC, Ramadan KM, Tsang P, Hardy E, Sehn L, Toze CL
Leuk Res 2020 Apr;91:106335. Epub 2020 Feb 24 doi: 10.1016/j.leukres.2020.106335. PMID: 32114372
Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome.
Bretelle F, Beyer L, Pellissier MC, Missirian C, Sigaudy S, Gamerre M, D'Ercole C, Philip N
Eur J Med Genet 2010 Nov-Dec;53(6):367-70. Epub 2010 Jul 24 doi: 10.1016/j.ejmg.2010.07.008. PMID: 20659598

Recent clinical studies

Etiology

Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes.
Cervantes A, García-Delgado C, Fernández-Ramírez F, Galaz-Montoya C, Morales-Jiménez AB, Nieto-Martínez K, Gómez-Laguna L, Villa-Morales J, Quintana-Palma M, Berúmen J, Kofman S, Morán-Barroso VF
BMC Med Genomics 2014 Sep 15;7:55. doi: 10.1186/1755-8794-7-55. PMID: 25223409Free PMC Article
Molecular basis of hereditary neuropathies.
Chance PF
Phys Med Rehabil Clin N Am 2001 May;12(2):277-91. PMID: 11345007
Precancerous lesions in the kidney.
Van Poppel H, Nilsson S, Algaba F, Bergerheim U, Dal Cin P, Fleming S, Hellsten S, Kirkali Z, Klotz L, Lindblad P, Ljungberg B, Mulders P, Roskams T, Ross RK, Walker C, Wersäll P
Scand J Urol Nephrol Suppl 2000;(205):136-65. PMID: 11144893
Inherited peripheral neuropathy.
Keller MP, Chance PF
Semin Neurol 1999;19(4):353-62. doi: 10.1055/s-2008-1040850. PMID: 10716658
Inherited neuropathies: from gene to disease.
Keller MP, Chance PF
Brain Pathol 1999 Apr;9(2):327-41. doi: 10.1111/j.1750-3639.1999.tb00230.x. PMID: 10219749Free PMC Article

Diagnosis

Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.
Hashmi JA, Fadhli F, Almatrafi A, Afzal S, Ramzan K, Thiele H, Nürnberg P, Basit S
Brain Dev 2020 Sep;42(8):587-593. Epub 2020 May 10 doi: 10.1016/j.braindev.2020.04.010. PMID: 32402540
Constitutional 3p26.3 terminal microdeletion in an adolescent with neuroblastoma.
Pezzolo A, Sementa AR, Lerone M, Morini M, Ognibene M, Defferrari R, Mazzocco K, Conte M, Gigliotti AR, Garaventa A, Pistoia V, Varesio L
Cancer Biol Ther 2017 May 4;18(5):285-289. Epub 2017 Apr 12 doi: 10.1080/15384047.2017.1312231. PMID: 28402723Free PMC Article
Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome.
Bretelle F, Beyer L, Pellissier MC, Missirian C, Sigaudy S, Gamerre M, D'Ercole C, Philip N
Eur J Med Genet 2010 Nov-Dec;53(6):367-70. Epub 2010 Jul 24 doi: 10.1016/j.ejmg.2010.07.008. PMID: 20659598
Molecular basis of hereditary neuropathies.
Chance PF
Phys Med Rehabil Clin N Am 2001 May;12(2):277-91. PMID: 11345007
Prenatal diagnosis of partial monosomy 3p and partial trisomy 2p in a fetus associated with shortening of the long bones and a single umbilical artery.
Chen CP, Liu FF, Jan SW, Lin SP, Lan CC
Prenat Diagn 1996 Mar;16(3):270-5. doi: 10.1002/(SICI)1097-0223(199603)16:3<270::AID-PD836>3.0.CO;2-0. PMID: 8710784

Therapy

Comparison of real-world treatment patterns in chronic lymphocytic leukemia management before and after availability of ibrutinib in the province of British Columbia, Canada.
Huang SJ, Gerrie AS, Young S, Tucker T, Bruyere H, Hrynchak M, Galbraith P, Al Tourah AJ, Dueck G, Noble MC, Ramadan KM, Tsang P, Hardy E, Sehn L, Toze CL
Leuk Res 2020 Apr;91:106335. Epub 2020 Feb 24 doi: 10.1016/j.leukres.2020.106335. PMID: 32114372
Differential genetic alterations in von Hippel-Lindau syndrome-associated and sporadic pheochromocytomas.
Bender BU, Gutsche M, Gläsker S, Müller B, Kirste G, Eng C, Neumann HP
J Clin Endocrinol Metab 2000 Dec;85(12):4568-74. doi: 10.1210/jcem.85.12.7015. PMID: 11134110
Allele-specific loss in chromosome 9p loci in preneoplastic lesions accompanying non-small-cell lung cancers.
Kishimoto Y, Sugio K, Hung JY, Virmani AK, McIntire DD, Minna JD, Gazdar AF
J Natl Cancer Inst 1995 Aug 16;87(16):1224-9. doi: 10.1093/jnci/87.16.1224. PMID: 7563168
Molecular genetic analysis of the 3p- syndrome.
Phipps ME, Latif F, Prowse A, Payne SJ, Dietz-Band J, Leversha M, Affara NA, Moore AT, Tolmie J, Schinzel A
Hum Mol Genet 1994 Jun;3(6):903-8. doi: 10.1093/hmg/3.6.903. PMID: 7951234
Loss of heterozygosity suggests multiple genetic alterations in pheochromocytomas and medullary thyroid carcinomas.
Khosla S, Patel VM, Hay ID, Schaid DJ, Grant CS, van Heerden JA, Thibodeau SN
J Clin Invest 1991 May;87(5):1691-9. doi: 10.1172/JCI115186. PMID: 2022740Free PMC Article

Prognosis

Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype.
Shepherdson JL, Zheng H, Amarillo IE, McAlinden A, Shinawi M
Bone 2021 Jan;142:115705. Epub 2020 Oct 22 doi: 10.1016/j.bone.2020.115705. PMID: 33141070Free PMC Article
Hypomethylating Agent Therapy in Myelodysplastic Syndromes With Chromosome 3 Abnormalities.
Sallman DA, Barnard J, Al Ali NH, Garcia-Manero G, Sekeres MA, DeZern A, Steensma DP, Roboz G, Jabbour E, Maciejewski JP, Pierce S, Padron E, Lancet JE, Kantarjian H, List AF, Komrokji RS
Clin Lymphoma Myeloma Leuk 2020 Sep;20(9):e597-e605. Epub 2020 Mar 20 doi: 10.1016/j.clml.2020.03.005. PMID: 32303488
Constitutional 3p26.3 terminal microdeletion in an adolescent with neuroblastoma.
Pezzolo A, Sementa AR, Lerone M, Morini M, Ognibene M, Defferrari R, Mazzocco K, Conte M, Gigliotti AR, Garaventa A, Pistoia V, Varesio L
Cancer Biol Ther 2017 May 4;18(5):285-289. Epub 2017 Apr 12 doi: 10.1080/15384047.2017.1312231. PMID: 28402723Free PMC Article
A case of 3p deletion syndrome associated with cerebellar hemangioblastoma.
Suzuki-Muromoto S, Hino-Fukuyo N, Haginoya K, Kikuchi A, Sato H, Sato Y, Nakayama T, Kubota Y, Kakisaka Y, Uematsu M, Kumabe T, Kure S
Brain Dev 2016 Feb;38(2):257-60. Epub 2015 Sep 11 doi: 10.1016/j.braindev.2015.07.005. PMID: 26365017
Characteristic genomic imbalances in pediatric pheochromocytoma.
Hering A, Guratowska M, Bucsky P, Claussen U, Decker J, Ernst G, Hoeppner W, Michel S, Neumann H, Parlowsky T, Loncarevic I
Genes Chromosomes Cancer 2006 Jun;45(6):602-7. doi: 10.1002/gcc.20323. PMID: 16518846

Clinical prediction guides

Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype.
Shepherdson JL, Zheng H, Amarillo IE, McAlinden A, Shinawi M
Bone 2021 Jan;142:115705. Epub 2020 Oct 22 doi: 10.1016/j.bone.2020.115705. PMID: 33141070Free PMC Article
Hypomethylating Agent Therapy in Myelodysplastic Syndromes With Chromosome 3 Abnormalities.
Sallman DA, Barnard J, Al Ali NH, Garcia-Manero G, Sekeres MA, DeZern A, Steensma DP, Roboz G, Jabbour E, Maciejewski JP, Pierce S, Padron E, Lancet JE, Kantarjian H, List AF, Komrokji RS
Clin Lymphoma Myeloma Leuk 2020 Sep;20(9):e597-e605. Epub 2020 Mar 20 doi: 10.1016/j.clml.2020.03.005. PMID: 32303488
Schizophrenia-related microdeletion causes defective ciliary motility and brain ventricle enlargement via microRNA-dependent mechanisms in mice.
Eom TY, Han SB, Kim J, Blundon JA, Wang YD, Yu J, Anderson K, Kaminski DB, Sakurada SM, Pruett-Miller SM, Horner L, Wagner B, Robinson CG, Eicholtz M, Rose DC, Zakharenko SS
Nat Commun 2020 Feb 14;11(1):912. doi: 10.1038/s41467-020-14628-y. PMID: 32060266Free PMC Article
Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.
Hadj Amor M, Dimassi S, Taj A, Slimani W, Hannachi H, Mlika A, Ben Helel K, Saad A, Mougou-Zerelli S
BMC Med Genet 2020 Feb 6;21(1):26. doi: 10.1186/s12881-020-0966-9. PMID: 32028920Free PMC Article
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.
Iype T, Alakbarzade V, Iype M, Singh R, Sreekantan-Nair A, Chioza BA, Mohapatra TM, Baple EL, Patton MA, Warner TT, Proukakis C, Kulkarni A, Crosby AH
BMC Med Genet 2015 Nov 10;16:104. doi: 10.1186/s12881-015-0251-5. PMID: 26554554Free PMC Article

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