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Partial duplication of chromosome X

MedGen UID:
1825971
•Concept ID:
C5679687
•
Cell or Molecular Dysfunction
Synonyms: partial duplication of chromosome type X; partial duplication of chromosome X; Partial trisomy of chromosome X; partial trisomy of chromosome X
 
Monarch Initiative: MONDO:0017008
Orphanet: ORPHA263768

Professional guidelines

PubMed

A novel multifunctional haplotyping-based preimplantation genetic testing for different genetic conditions.
Xie P, Hu X, Kong L, Mao Y, Cheng D, Kang K, Dai J, Zhao D, Zhang Y, Lu N, Wan Z, Du R, Xiong B, Zhang J, Tan Y, Lu G, Gong F, Lin G, Liang B, Du J, Hu L
Hum Reprod 2022 Oct 31;37(11):2546-2559. doi: 10.1093/humrep/deac190. PMID: 36066440
Performance of a Paired-End Sequencing-Based Noninvasive Prenatal Screening Test in the Detection of Genome-Wide Fetal Chromosomal Anomalies.
Pertile MD, Flowers N, Vavrek D, Andrews D, Kalista T, Craig A, Deciu C, Duenwald S, Meier K, Bhatt S
Clin Chem 2021 Sep 1;67(9):1210-1219. doi: 10.1093/clinchem/hvab067. PMID: 34077512
Prenatal diagnosis of an inherited translocation between chromosomes No. 9 and 18.
Ebbin AJ, Wilson MG, Towner JW, Slaughter JP
J Med Genet 1973 Mar;10(1):65-9. doi: 10.1136/jmg.10.1.65. PMID: 4697854Free PMC Article

Recent clinical studies

Etiology

Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases.
Levy M, Elron E, Shohat M, Lifshitz S, Kahana S, Shani H, Grossman A, Amar S, Narkis G, Sagi-Dain L, Basel-Salmon L, Maya I
J Hum Genet 2024 Jul;69(7):337-343. Epub 2024 Apr 18 doi: 10.1038/s10038-024-01252-7. PMID: 38632380Free PMC Article
Epigenetics in Turner syndrome.
Álvarez-Nava F, Lanes R
Clin Epigenetics 2018;10:45. Epub 2018 Apr 6 doi: 10.1186/s13148-018-0477-0. PMID: 29636833Free PMC Article
Rare X Chromosome Abnormalities in Systemic Lupus Erythematosus and Sjögren's Syndrome.
Sharma R, Harris VM, Cavett J, Kurien BT, Liu K, Koelsch KA, Fayaaz A, Chaudhari KS, Radfar L, Lewis D, Stone DU, Kaufman CE, Li S, Segal B, Wallace DJ, Weisman MH, Venuturupalli S, Kelly JA, Pons-Estel B, Jonsson R, Lu X, Gottenberg JE, Anaya JM, Cunninghame-Graham DS, Huang AJW, Brennan MT, Hughes P, Alevizos I, Miceli-Richard C, Keystone EC, Bykerk VP, Hirschfield G, Nordmark G, Bucher SM, Eriksson P, Omdal R, Rhodus NL, Rischmueller M, Rohrer M, Wahren-Herlenius M, Witte T, Alarcón-Riquelme M, Mariette X, Lessard CJ, Harley JB, Ng WF, Rasmussen A, Sivils KL, Scofield RH
Arthritis Rheumatol 2017 Nov;69(11):2187-2192. Epub 2017 Oct 12 doi: 10.1002/art.40207. PMID: 28692793Free PMC Article
Ring X and other structural X chromosome abnormalities: X inactivation and phenotype.
Leppig KA, Disteche CM
Semin Reprod Med 2001 Jun;19(2):147-57. doi: 10.1055/s-2001-15395. PMID: 11480912
Tertiary trisomy (22q11q),47,+der(22),t(11;22).
Biederman BM, Lin CC, Lowry RB, Somerville R
Hum Genet 1980 Feb;53(2):173-7. doi: 10.1007/BF00273491. PMID: 7358384

Diagnosis

Detection of partial deletion and mosaicism using quantitative fluorescent polymerase chain reaction: Case reports and a review of the literature.
Xu C, Peng J, Zhang Y, Liang S, Wang D
J Clin Lab Anal 2022 Aug;36(8):e24574. Epub 2022 Jun 29 doi: 10.1002/jcla.24574. PMID: 35766446Free PMC Article
Dosage sensitivity and exon shuffling shape the landscape of polymorphic duplicates in Drosophila and humans.
Zhang D, Leng L, Chen C, Huang J, Zhang Y, Yuan H, Ma C, Chen H, Zhang YE
Nat Ecol Evol 2022 Mar;6(3):273-287. Epub 2021 Dec 30 doi: 10.1038/s41559-021-01614-w. PMID: 34969986
Principles of genetic variations and molecular diseases: applications in hemophilia A.
Lannoy N, Hermans C
Crit Rev Oncol Hematol 2016 Aug;104:1-8. Epub 2016 Apr 21 doi: 10.1016/j.critrevonc.2016.04.005. PMID: 27296059
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Eng CM, Desnick RJ
Hum Mutat 1994;3(2):103-11. doi: 10.1002/humu.1380030204. PMID: 7911050
Agenesis of the corpus callosum: clinical, neuroradiological and cytogenetic studies.
Serur D, Jeret JS, Wisniewski K
Neuropediatrics 1988 May;19(2):87-91. doi: 10.1055/s-2008-1052407. PMID: 2453812

Therapy

A novel multifunctional haplotyping-based preimplantation genetic testing for different genetic conditions.
Xie P, Hu X, Kong L, Mao Y, Cheng D, Kang K, Dai J, Zhao D, Zhang Y, Lu N, Wan Z, Du R, Xiong B, Zhang J, Tan Y, Lu G, Gong F, Lin G, Liang B, Du J, Hu L
Hum Reprod 2022 Oct 31;37(11):2546-2559. doi: 10.1093/humrep/deac190. PMID: 36066440
Performance of a Paired-End Sequencing-Based Noninvasive Prenatal Screening Test in the Detection of Genome-Wide Fetal Chromosomal Anomalies.
Pertile MD, Flowers N, Vavrek D, Andrews D, Kalista T, Craig A, Deciu C, Duenwald S, Meier K, Bhatt S
Clin Chem 2021 Sep 1;67(9):1210-1219. doi: 10.1093/clinchem/hvab067. PMID: 34077512
Autism in two females with duplications involving Xp11.22-p11.23.
Edens AC, Lyons MJ, Duron RM, Dupont BR, Holden KR
Dev Med Child Neurol 2011 May;53(5):463-6. Epub 2011 Mar 21 doi: 10.1111/j.1469-8749.2010.03909.x. PMID: 21418194
Partial Xp11.23-p11.4 duplication with random X inactivation: clinical report and molecular cytogenetic characterization.
Monnot S, Giuliano F, Massol C, Fossoud C, Cossée M, Lambert JC, Karmous-Benailly H
Am J Med Genet A 2008 May 15;146A(10):1325-9. doi: 10.1002/ajmg.a.32238. PMID: 18412111
Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature.
Matsuo M, Muroya K, Kosaki K, Ishii T, Fukushima Y, Anzo M, Ogata T
Am J Med Genet 1999 Sep 3;86(1):44-50. PMID: 10440827

Prognosis

Dosage sensitivity and exon shuffling shape the landscape of polymorphic duplicates in Drosophila and humans.
Zhang D, Leng L, Chen C, Huang J, Zhang Y, Yuan H, Ma C, Chen H, Zhang YE
Nat Ecol Evol 2022 Mar;6(3):273-287. Epub 2021 Dec 30 doi: 10.1038/s41559-021-01614-w. PMID: 34969986
Mobile DNA in Endocrinology: LINE-1 Retrotransposon Causing Partial Androgen Insensitivity Syndrome.
Batista RL, Yamaguchi K, Rodrigues ADS, Nishi MY, Goodier JL, Carvalho LR, Domenice S, Costa EMF, Kazazian HH, Mendonca BB
J Clin Endocrinol Metab 2019 Dec 1;104(12):6385-6390. doi: 10.1210/jc.2019-00144. PMID: 31393562Free PMC Article
A Spontaneous Pregnancy in a Patient with Turner Syndrome with 45,X/47,XXX Mosaicism: A Case Report and Review of the Literature.
Mavridi A, Ntali G, Theodora M, Stamatelopoulos K, Michala L
J Pediatr Adolesc Gynecol 2018 Dec;31(6):651-654. Epub 2018 Aug 20 doi: 10.1016/j.jpag.2018.07.005. PMID: 30012427
Genomic studies of multiple myeloma reveal an association between X chromosome alterations and genomic profile complexity.
Sticca T, Caberg JH, Wenric S, Poulet C, Herens C, Jamar M, Josse C, El Guendi S, Max S, Beguin Y, Gothot A, Caers J, Bours V
Genes Chromosomes Cancer 2017 Jan;56(1):18-27. Epub 2016 Aug 18 doi: 10.1002/gcc.22397. PMID: 27454822
Duplication of 7p: further delineation of the phenotype and restriction of the critical region to the distal part of the short arm.
Reish O, Berry SA, Dewald G, King RA
Am J Med Genet 1996 Jan 2;61(1):21-5. doi: 10.1002/(SICI)1096-8628(19960102)61:1<21::AID-AJMG4>3.0.CO;2-#. PMID: 8741912

Clinical prediction guides

Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases.
Levy M, Elron E, Shohat M, Lifshitz S, Kahana S, Shani H, Grossman A, Amar S, Narkis G, Sagi-Dain L, Basel-Salmon L, Maya I
J Hum Genet 2024 Jul;69(7):337-343. Epub 2024 Apr 18 doi: 10.1038/s10038-024-01252-7. PMID: 38632380Free PMC Article
Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations.
Fang X, Hilton B, Clarkson K, Rogers RC, Schroer R, Childers A, Patterson WG, Davis JM, Everman DB, DuPont BR
Cytogenet Genome Res 2023;163(1-2):14-23. Epub 2023 Jul 27 doi: 10.1159/000533218. PMID: 37497920
Dosage sensitivity and exon shuffling shape the landscape of polymorphic duplicates in Drosophila and humans.
Zhang D, Leng L, Chen C, Huang J, Zhang Y, Yuan H, Ma C, Chen H, Zhang YE
Nat Ecol Evol 2022 Mar;6(3):273-287. Epub 2021 Dec 30 doi: 10.1038/s41559-021-01614-w. PMID: 34969986
Parental origin and mechanisms of formation of triploidy: a study of 25 cases.
Baumer A, Balmer D, Binkert F, Schinzel A
Eur J Hum Genet 2000 Dec;8(12):911-7. doi: 10.1038/sj.ejhg.5200572. PMID: 11175278
Duplication of 7p: further delineation of the phenotype and restriction of the critical region to the distal part of the short arm.
Reish O, Berry SA, Dewald G, King RA
Am J Med Genet 1996 Jan 2;61(1):21-5. doi: 10.1002/(SICI)1096-8628(19960102)61:1<21::AID-AJMG4>3.0.CO;2-#. PMID: 8741912

Recent systematic reviews

Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.
Dirvanskyte P, Gurram B, Bolton C, Warner N, Jones KDJ, Griffin HR; Genomics England Research Consortium, Park JY, Keller KM, Gilmour KC, Hambleton S, Muise AM, Wysocki C, Uhlig HH
J Crohns Colitis 2023 Jan 27;17(1):49-60. doi: 10.1093/ecco-jcc/jjac103. PMID: 35907265Free PMC Article
A boy with partial dup(18q)/del(18p) due to a maternal pericentric inversion: Genotype-phenotype correlation and risk of recombinant chromosomes based on systematic review of the literature.
Lustosa-Mendes E, Dos Santos AP, Viguetti-Campos NL, Vieira TP, Gil-da-Silva-Lopes VL
Am J Med Genet A 2017 Jan;173(1):143-150. Epub 2016 Sep 15 doi: 10.1002/ajmg.a.37976. PMID: 27633903

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