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Partial autosomal deletion

MedGen UID:
1841557
•Concept ID:
C5816695
•
Cell or Molecular Dysfunction
Synonym: Partial autosomal monosomy
 
Orphanet: ORPHA98142

Professional guidelines

PubMed

Genotype-phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions.
Zhang K, Yang W, Ma K, Qiu J, Li L, Xu Y, Zhang Z, Yu C, Zhou J, Gong Y, Cai L, Gong K
J Med Genet 2023 May;60(5):477-483. Epub 2022 Sep 7 doi: 10.1136/jmg-2022-108633. PMID: 37080588
The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.
Lima Cunha D, Arno G, Corton M, Moosajee M
Genes (Basel) 2019 Dec 17;10(12) doi: 10.3390/genes10121050. PMID: 31861090Free PMC Article
Genotype-phenotype correlations in FSHD.
Zernov N, Skoblov M
BMC Med Genomics 2019 Mar 13;12(Suppl 2):43. doi: 10.1186/s12920-019-0488-5. PMID: 30871534Free PMC Article

Recent clinical studies

Etiology

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.
Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042
Genotype-phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions.
Zhang K, Yang W, Ma K, Qiu J, Li L, Xu Y, Zhang Z, Yu C, Zhou J, Gong Y, Cai L, Gong K
J Med Genet 2023 May;60(5):477-483. Epub 2022 Sep 7 doi: 10.1136/jmg-2022-108633. PMID: 37080588
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
A review of the clinical and genetic aspects of aniridia.
Lee HJ, Colby KA
Semin Ophthalmol 2013 Sep-Nov;28(5-6):306-12. doi: 10.3109/08820538.2013.825293. PMID: 24138039
Sotos syndrome.
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article

Diagnosis

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.
Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042
The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.
Lima Cunha D, Arno G, Corton M, Moosajee M
Genes (Basel) 2019 Dec 17;10(12) doi: 10.3390/genes10121050. PMID: 31861090Free PMC Article
Happy Puppet syndrome.
Sarkar PA, Shigli A, Patidar C
BMJ Case Rep 2011 Oct 28;2011 doi: 10.1136/bcr.09.2011.4747. PMID: 22675103Free PMC Article
Sotos syndrome.
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article
Mitochondrial disorders.
Zeviani M, Tiranti V, Piantadosi C
Medicine (Baltimore) 1998 Jan;77(1):59-72. doi: 10.1097/00005792-199801000-00006. PMID: 9465864

Therapy

A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.
Malekkou A, Tomazou M, Mavrikiou G, Dionysiou M, Georgiou T, Papaevripidou I, Alexandrou A, Sismani C, Drousiotou A, Grafakou O, Petrou PP
BMC Med Genomics 2024 Mar 25;17(1):78. doi: 10.1186/s12920-024-01846-2. PMID: 38528593Free PMC Article
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
Transcriptomic and Proteostasis Networks of CFTR and the Development of Small Molecule Modulators for the Treatment of Cystic Fibrosis Lung Disease.
Strub MD, McCray PB Jr
Genes (Basel) 2020 May 13;11(5) doi: 10.3390/genes11050546. PMID: 32414011Free PMC Article
Happy Puppet syndrome.
Sarkar PA, Shigli A, Patidar C
BMJ Case Rep 2011 Oct 28;2011 doi: 10.1136/bcr.09.2011.4747. PMID: 22675103Free PMC Article
Genetics of human male infertility.
Poongothai J, Gopenath TS, Manonayaki S
Singapore Med J 2009 Apr;50(4):336-47. PMID: 19421675

Prognosis

A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.
Malekkou A, Tomazou M, Mavrikiou G, Dionysiou M, Georgiou T, Papaevripidou I, Alexandrou A, Sismani C, Drousiotou A, Grafakou O, Petrou PP
BMC Med Genomics 2024 Mar 25;17(1):78. doi: 10.1186/s12920-024-01846-2. PMID: 38528593Free PMC Article
Genotype-phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions.
Zhang K, Yang W, Ma K, Qiu J, Li L, Xu Y, Zhang Z, Yu C, Zhou J, Gong Y, Cai L, Gong K
J Med Genet 2023 May;60(5):477-483. Epub 2022 Sep 7 doi: 10.1136/jmg-2022-108633. PMID: 37080588
Y disruption, autosomal hypomethylation and poor male lung cancer survival.
Willis-Owen SAG, Domingo-Sabugo C, Starren E, Liang L, Freidin MB, Arseneault M, Zhang Y, Lu SK, Popat S, Lim E, Nicholson AG, Riazalhosseini Y, Lathrop M, Cookson WOC, Moffatt MF
Sci Rep 2021 Jun 14;11(1):12453. doi: 10.1038/s41598-021-91907-8. PMID: 34127738Free PMC Article
Genotype-phenotype correlations in FSHD.
Zernov N, Skoblov M
BMC Med Genomics 2019 Mar 13;12(Suppl 2):43. doi: 10.1186/s12920-019-0488-5. PMID: 30871534Free PMC Article
Sotos syndrome.
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article

Clinical prediction guides

Genotype-phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions.
Zhang K, Yang W, Ma K, Qiu J, Li L, Xu Y, Zhang Z, Yu C, Zhou J, Gong Y, Cai L, Gong K
J Med Genet 2023 May;60(5):477-483. Epub 2022 Sep 7 doi: 10.1136/jmg-2022-108633. PMID: 37080588
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study.
Raviglione F, Douzgou S, Scala M, Mingarelli A, D'Arrigo S, Freri E, Darra F, Giglio S, Bonaglia MC, Pantaleoni C, Mastrangelo M, Epifanio R, Elia M, Saletti V, Morlino S, Vari MS, De Liso P, Pavaine J, Spaccini L, Cattaneo E, Gardella E, Møller RS, Marchese F, Colonna C, Gandioli C, Gobbi G, Ram D, Palumbo O, Carella M, Germano M, Tonduti D, De Angelis D, Caputo D, Bergonzini P, Novara F, Zuffardi O, Verrotti A, Orsini A, Bonuccelli A, De Muto MC, Trivisano M, Vigevano F, Granata T, Bernardina BD, Tranchina A, Striano P
Seizure 2021 May;88:60-72. Epub 2021 Mar 30 doi: 10.1016/j.seizure.2021.03.025. PMID: 33831796
Gene of the month: DICER1: ruler and controller.
Thunders M, Delahunt B
J Clin Pathol 2021 Feb;74(2):69-72. Epub 2020 Dec 8 doi: 10.1136/jclinpath-2020-207203. PMID: 33293352
Genotype-phenotype correlations in FSHD.
Zernov N, Skoblov M
BMC Med Genomics 2019 Mar 13;12(Suppl 2):43. doi: 10.1186/s12920-019-0488-5. PMID: 30871534Free PMC Article
Sotos syndrome.
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article

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