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Phenotypic abnormality

MedGen UID:
867443
•Concept ID:
C4021819
•
Anatomical Abnormality
Synonym: Organ abnormality
 
HPO: HP:0000118

Definition

A phenotypic abnormality. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPhenotypic abnormality

Professional guidelines

PubMed

Prenatal diagnosis of a 5q35.3 microduplication involving part of the ADAMTS2 locus: a likely benign variant without apparent phenotypic abnormality: Case series.
Yue F, Yu Y, Xi Q, Zhang H, Jiang Y, Li S, Liu R, Wang R
Medicine (Baltimore) 2019 Dec;98(49):e18258. doi: 10.1097/MD.0000000000018258. PMID: 31804359Free PMC Article
Prenatal diagnosis and molecular cytogenetic characterization of de novo pure partial trisomy 6p associated with microcephaly, craniosynostosis and abnormal maternal serum biochemistry.
Chen CP, Chen M, Chen CY, Chern SR, Wu PS, Chang SP, Kuo YL, Chen WL, Pan CW, Wang W
Gene 2014 Feb 25;536(2):425-9. Epub 2013 Dec 25 doi: 10.1016/j.gene.2013.12.036. PMID: 24374139

Recent clinical studies

Etiology

Flow cytometry to detect bone marrow involvement by follicular lymphoma.
Aren M, Marce S, Jurado R, Tapia G, Puigdefabregues L, Raya M, Cortes M, Garcia-Caro M, Junca J, Mozas P, Viñets E, Cabezon M, Plensa E, Miljkovic M, Sancho JM, Navarro JT, Zamora L, Sorigue M
Cytometry B Clin Cytom 2022 Nov;102(6):427-439. Epub 2022 Oct 31 doi: 10.1002/cyto.b.22098. PMID: 36314855
Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome.
Close S, Fennoy I, Smaldone A, Reame N
J Pediatr 2015 Sep;167(3):650-7. Epub 2015 Jul 21 doi: 10.1016/j.jpeds.2015.06.037. PMID: 26205184Free PMC Article
Usefulness of flow cytometry in the diagnosis of mycosis fungoides.
Oshtory S, Apisarnthanarax N, Gilliam AC, Cooper KD, Meyerson HJ
J Am Acad Dermatol 2007 Sep;57(3):454-62. doi: 10.1016/j.jaad.2007.01.017. PMID: 17707150
Achondrogenesis type II (Langer-Saldino achondrogenesis): a case report.
Lee HS, Doh JW, Kim CJ, Chi JG
J Korean Med Sci 2000 Oct;15(5):604-8. doi: 10.3346/jkms.2000.15.5.604. PMID: 11069003Free PMC Article
Mild androgen insensitivity presenting with sexual dysfunction.
Cundy TF, Rees M, Evans BA, Hughes IA, Butler J, Wheeler MJ
Fertil Steril 1986 Oct;46(4):721-3. doi: 10.1016/s0015-0282(16)49659-7. PMID: 3758395

Diagnosis

Prenatal diagnosis of a familial 9p12 amplification inherited from a father carrier.
Chen CP, Chen CY, Chern SR, Wu PS, Chen SW, Wu FT, Chen YY, Lee CC, Pan CW, Wang W
Taiwan J Obstet Gynecol 2021 Sep;60(5):905-906. doi: 10.1016/j.tjog.2021.07.021. PMID: 34507671
Prenatal diagnosis of mosaicism for a distal 5p deletion in a single colony at amniocentesis in a pregnancy with a favorable outcome and a review of mosaic distal 5p deletion.
Chen CP, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Chen WL, Wang W
Taiwan J Obstet Gynecol 2020 Mar;59(2):334-337. doi: 10.1016/j.tjog.2020.01.028. PMID: 32127161
Duplication of chromosome 2 in association with ventriculomegaly - a case report.
Martin WL, Pretlove S, Mercer A, Platt CC, Roberts E, Davison V, Kilby MD
Prenat Diagn 2001 Dec;21(13):1169-70. doi: 10.1002/pd.216. PMID: 11787046
Post-mortem findings in a fetus with 48,XXY,+21.
Smith A, Watson G, Michas J, Viersbach R, Ellwood D
Prenat Diagn 1991 Jul;11(7):471-6. doi: 10.1002/pd.1970110711. PMID: 1754565
Antenatal diagnosis of a de novo reciprocal translocation 46,XX,t(3;7)(q21;q11).
Husslein P, Schnedl W, Wagenbichler P
Hum Genet 1979 Sep 2;51(1):113-6. doi: 10.1007/BF00278300. PMID: 500088

Prognosis

Behavioral abnormalities in APPSwe/PS1dE9 mouse model of AD-like pathology: comparative analysis across multiple behavioral domains.
Janus C, Flores AY, Xu G, Borchelt DR
Neurobiol Aging 2015 Sep;36(9):2519-32. Epub 2015 May 21 doi: 10.1016/j.neurobiolaging.2015.05.010. PMID: 26089165
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J
Am J Hum Genet 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001. PMID: 20797691Free PMC Article
Molecular basis of breast cancer.
Al-Mansouri LJ, Alokail MS
Saudi Med J 2006 Jan;27(1):9-16. PMID: 16432586
Expression of the gene encoding the matrix gla protein by mature osteoblasts in human fracture non-unions.
Lawton DM, Andrew JG, Marsh DR, Hoyland JA, Freemont AJ
Mol Pathol 1999 Apr;52(2):92-6. doi: 10.1136/mp.52.2.92. PMID: 10474688Free PMC Article
Antenatal diagnosis of a de novo reciprocal translocation 46,XX,t(3;7)(q21;q11).
Husslein P, Schnedl W, Wagenbichler P
Hum Genet 1979 Sep 2;51(1):113-6. doi: 10.1007/BF00278300. PMID: 500088

Clinical prediction guides

Application of immunophenotypic analysis in distinguishing chronic myelomonocytic leukemia from reactive monocytosis.
Feng R, Bhatt VR, Fu K, Pirruccello S, Yuan J
Cytometry B Clin Cytom 2018 Nov;94(6):901-909. Epub 2018 Oct 17 doi: 10.1002/cyto.b.21721. PMID: 30334354
Phenotype and Adverse Quality of Life in Boys with Klinefelter Syndrome.
Close S, Fennoy I, Smaldone A, Reame N
J Pediatr 2015 Sep;167(3):650-7. Epub 2015 Jul 21 doi: 10.1016/j.jpeds.2015.06.037. PMID: 26205184Free PMC Article
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J
Am J Hum Genet 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001. PMID: 20797691Free PMC Article
Usefulness of flow cytometry in the diagnosis of mycosis fungoides.
Oshtory S, Apisarnthanarax N, Gilliam AC, Cooper KD, Meyerson HJ
J Am Acad Dermatol 2007 Sep;57(3):454-62. doi: 10.1016/j.jaad.2007.01.017. PMID: 17707150
Antenatal diagnosis of a de novo reciprocal translocation 46,XX,t(3;7)(q21;q11).
Husslein P, Schnedl W, Wagenbichler P
Hum Genet 1979 Sep 2;51(1):113-6. doi: 10.1007/BF00278300. PMID: 500088

Recent systematic reviews

Homozygosity for constitutional chromosomal rearrangements: a systematic review with reference to origin, ascertainment and phenotype.
O'Neill ID
J Hum Genet 2010 Sep;55(9):559-64. Epub 2010 Jun 24 doi: 10.1038/jhg.2010.80. PMID: 20574425

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