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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
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
Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).
Qiao Y, Mercier E, Dastan J, Hurlburt J, McGillivray B, Chudley AE, Farrell S, Bernier FP, Lewis MS, Pavlidis P, Rajcan-Separovic E
BMC Med Genet 2014 Jul 16;15:82. doi: 10.1186/1471-2350-15-82. PMID: 25030379Free PMC Article
Prenatal diagnosis of de novo X;autosome translocations.
Abrams L, Cotter PD
Clin Genet 2004 May;65(5):423-8. doi: 10.1111/j.0009-9163.2004.00255.x. PMID: 15099352

Diagnosis

Mosaic isochromosome 20q at amniocentesis: Prenatal diagnosis, genetic counseling and literature review.
Chen CP, Chern SR, Wu PS, Chen SW, Wu FT, Town DD, Wang W
Taiwan J Obstet Gynecol 2019 Nov;58(6):855-858. doi: 10.1016/j.tjog.2019.08.002. PMID: 31759542
Prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome derived from chromosome 4q (4q11.1-q13.2) and 5q13.2 microdeletion with no apparent phenotypic abnormality.
Chen CP, Chern SR, Chen YN, Chen SW, Wu PS, Yang CW, Lee CC, Lee MS, Pan CW, Wang W
Taiwan J Obstet Gynecol 2017 Apr;56(2):217-223. doi: 10.1016/j.tjog.2017.01.002. PMID: 28420511
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
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
Prenatal diagnosis of de novo X;autosome translocations.
Abrams L, Cotter PD
Clin Genet 2004 May;65(5):423-8. doi: 10.1111/j.0009-9163.2004.00255.x. PMID: 15099352

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
FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.
Fantes JA, Boland E, Ramsay J, Donnai D, Splitt M, Goodship JA, Stewart H, Whiteford M, Gautier P, Harewood L, Holloway S, Sharkey F, Maher E, van Heyningen V, Clayton-Smith J, Fitzpatrick DR, Black GC
Am J Hum Genet 2008 Apr;82(4):916-26. Epub 2008 Mar 27 doi: 10.1016/j.ajhg.2008.02.007. PMID: 18374296Free PMC Article
Molecular basis of breast cancer.
Al-Mansouri LJ, Alokail MS
Saudi Med J 2006 Jan;27(1):9-16. PMID: 16432586
Prenatal diagnosis of minute supernumerary marker chromosomes.
Cotter PD, Drexler K, Corley AL, Covert SM, Moland JS, Govberg IJ, Norton ME
Gynecol Obstet Invest 2005;60(1):27-38. Epub 2005 Jan 24 doi: 10.1159/000083482. PMID: 15689640

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
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
Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).
Qiao Y, Mercier E, Dastan J, Hurlburt J, McGillivray B, Chudley AE, Farrell S, Bernier FP, Lewis MS, Pavlidis P, Rajcan-Separovic E
BMC Med Genet 2014 Jul 16;15:82. doi: 10.1186/1471-2350-15-82. PMID: 25030379Free 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

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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