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Congenital chromosomal disease

MedGen UID:
3441
Concept ID:
C0008626
Congenital Abnormality
Synonyms: Chromosomal anomaly; Chromosomal disorder
SNOMED CT: Chromosomopathy (74345006); Chromosomal abnormality syndrome (74345006); Chromosomal hereditary disorder (74345006); Chromosomal imbalance syndrome (74345006); Anomaly of chromosome (74345006); Congenital chromosomal disease (74345006); Chromosomal disorder (409709004); Congenital disorder due to abnormality of chromosome number OR structure (74345006); Chromosomal anomaly (409709004)
 
Related gene: GATA1
 
Monarch Initiative: MONDO:0019040
Orphanet: ORPHA68335

Definition

A disorder that results from a chromosomal abnormality. [from NCI]

Term Hierarchy

Professional guidelines

PubMed

Shao L, Akkari Y, Cooley LD, Miller DT, Seifert BA, Wolff DJ, Mikhail FM; ACMG Laboratory Quality Assurance Committee.
Genet Med 2021 Oct;23(10):1818-1829. Epub 2021 Jun 15 doi: 10.1038/s41436-021-01214-w. PMID: 34131312
Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, Klugman S, Watson MS
Genet Med 2016 Oct;18(10):1056-65. Epub 2016 Jul 28 doi: 10.1038/gim.2016.97. PMID: 27467454
Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC; European Society of Human Genetics.; American Society of Human Genetics.
Eur J Hum Genet 2015 Nov;23(11):1438-50. Epub 2015 Mar 18 doi: 10.1038/ejhg.2015.57. PMID: 25782669Free PMC Article
J Prenat Med 2013 Apr;7(2):19-20. PMID: 23991274Free PMC Article
Gregg AR, Gross SJ, Best RG, Monaghan KG, Bajaj K, Skotko BG, Thompson BH, Watson MS
Genet Med 2013 May;15(5):395-8. Epub 2013 Apr 4 doi: 10.1038/gim.2013.29. PMID: 23558255
Devers PL, Cronister A, Ormond KE, Facio F, Brasington CK, Flodman P
J Genet Couns 2013 Jun;22(3):291-5. Epub 2013 Jan 22 doi: 10.1007/s10897-012-9564-0. PMID: 23334531
Wilson KL, Czerwinski JL, Hoskovec JM, Noblin SJ, Sullivan CM, Harbison A, Campion MW, Devary K, Devers P, Singletary CN
J Genet Couns 2013 Feb;22(1):4-15. Epub 2012 Nov 22 doi: 10.1007/s10897-012-9545-3. PMID: 23179172

External

National Society of Genetic Counselors Position Statement: Prenatal Cell-Free DNA Screening

Recent clinical studies

Etiology

Martel RA, Blakemore JK, Fino ME
J Assist Reprod Genet 2022 May;39(5):1143-1153. Epub 2022 Mar 23 doi: 10.1007/s10815-022-02469-1. PMID: 35320443Free PMC Article
Gill K, Sasaki J, Jayakar P, Sosa L, Welch E
Cardiol Young 2021 Aug;31(8):1275-1282. Epub 2021 Feb 4 doi: 10.1017/S1047951121000202. PMID: 33536103
Szczepura A, Wynn S, Searle B, Khan AJ, Palmer T, Biggerstaff D, Elliott J, Hultén MA
Clin Genet 2018 May;93(5):972-981. Epub 2018 Mar 15 doi: 10.1111/cge.13207. PMID: 29318577
Wang Y, Cao L, Liang D, Meng L, Wu Y, Qiao F, Ji X, Luo C, Zhang J, Xu T, Yu B, Wang L, Wang T, Pan Q, Ma D, Hu P, Xu Z
Am J Obstet Gynecol 2018 Feb;218(2):244.e1-244.e17. Epub 2017 Nov 8 doi: 10.1016/j.ajog.2017.10.225. PMID: 29128521
Zhu X, Li J, Ru T, Wang Y, Xu Y, Yang Y, Wu X, Cram DS, Hu Y
Prenat Diagn 2016 Apr;36(4):321-7. Epub 2016 Mar 8 doi: 10.1002/pd.4782. PMID: 26833920

Diagnosis

Villela D, Mazzonetto PC, Migliavacca MP, Perrone E, Guida G, Milanezi MFG, Jorge AAL, Ribeiro-Bicudo LA, Kok F, Campagnari F, de Rosso-Giuliani L, da Costa SS, Vianna-Morgante AM, Pearson PL, Krepischi ACV, Rosenberg C
Am J Med Genet A 2021 Aug;185(8):2335-2344. Epub 2021 May 14 doi: 10.1002/ajmg.a.62237. PMID: 33988290
Gill K, Sasaki J, Jayakar P, Sosa L, Welch E
Cardiol Young 2021 Aug;31(8):1275-1282. Epub 2021 Feb 4 doi: 10.1017/S1047951121000202. PMID: 33536103
Szczepura A, Wynn S, Searle B, Khan AJ, Palmer T, Biggerstaff D, Elliott J, Hultén MA
Clin Genet 2018 May;93(5):972-981. Epub 2018 Mar 15 doi: 10.1111/cge.13207. PMID: 29318577
Wang Y, Cao L, Liang D, Meng L, Wu Y, Qiao F, Ji X, Luo C, Zhang J, Xu T, Yu B, Wang L, Wang T, Pan Q, Ma D, Hu P, Xu Z
Am J Obstet Gynecol 2018 Feb;218(2):244.e1-244.e17. Epub 2017 Nov 8 doi: 10.1016/j.ajog.2017.10.225. PMID: 29128521
Zhu X, Li J, Ru T, Wang Y, Xu Y, Yang Y, Wu X, Cram DS, Hu Y
Prenat Diagn 2016 Apr;36(4):321-7. Epub 2016 Mar 8 doi: 10.1002/pd.4782. PMID: 26833920

Therapy

Xia Y, Yang Y, Huang S, Wu Y, Li P, Zhuang J
Prenat Diagn 2018 May;38(6):406-413. Epub 2018 Apr 27 doi: 10.1002/pd.5249. PMID: 29573438
Skuse D, Printzlau F, Wolstencroft J
Handb Clin Neurol 2018;147:355-376. doi: 10.1016/B978-0-444-63233-3.00024-5. PMID: 29325624
Wang Y, Cao L, Liang D, Meng L, Wu Y, Qiao F, Ji X, Luo C, Zhang J, Xu T, Yu B, Wang L, Wang T, Pan Q, Ma D, Hu P, Xu Z
Am J Obstet Gynecol 2018 Feb;218(2):244.e1-244.e17. Epub 2017 Nov 8 doi: 10.1016/j.ajog.2017.10.225. PMID: 29128521
Del Carmen Nogales M, Bronet F, Basile N, Martínez EM, Liñán A, Rodrigo L, Meseguer M
Fertil Steril 2017 Jan;107(1):229-235.e2. Epub 2016 Nov 2 doi: 10.1016/j.fertnstert.2016.09.019. PMID: 27816230
Zhu X, Li J, Ru T, Wang Y, Xu Y, Yang Y, Wu X, Cram DS, Hu Y
Prenat Diagn 2016 Apr;36(4):321-7. Epub 2016 Mar 8 doi: 10.1002/pd.4782. PMID: 26833920

Prognosis

Martel RA, Blakemore JK, Fino ME
J Assist Reprod Genet 2022 May;39(5):1143-1153. Epub 2022 Mar 23 doi: 10.1007/s10815-022-02469-1. PMID: 35320443Free PMC Article
Gill K, Sasaki J, Jayakar P, Sosa L, Welch E
Cardiol Young 2021 Aug;31(8):1275-1282. Epub 2021 Feb 4 doi: 10.1017/S1047951121000202. PMID: 33536103
Nacher M, Lambert V, Favre A, Carles G, Elenga N
BMC Pediatr 2018 Dec 22;18(1):393. doi: 10.1186/s12887-018-1372-8. PMID: 30579351Free PMC Article
Neufeld-Kaiser WA, Cheng EY, Liu YJ
BMC Med 2015 Jun 2;13:129. doi: 10.1186/s12916-015-0374-8. PMID: 26033224Free PMC Article
Zuberi SM
Handb Clin Neurol 2013;111:543-8. doi: 10.1016/B978-0-444-52891-9.00057-9. PMID: 23622202

Clinical prediction guides

Serra G, Giambrone C, Antona V, Cardella F, Carta M, Cimador M, Corsello G, Giuffrè M, Insinga V, Maggio MC, Pensabene M, Schierz IAM, Piro E
Ital J Pediatr 2022 Sep 8;48(1):170. doi: 10.1186/s13052-022-01365-9. PMID: 36076277Free PMC Article
Martel RA, Blakemore JK, Fino ME
J Assist Reprod Genet 2022 May;39(5):1143-1153. Epub 2022 Mar 23 doi: 10.1007/s10815-022-02469-1. PMID: 35320443Free PMC Article
Iourov IY, Vorsanova SG, Yurov YB, Zelenova MA, Kurinnaia OS, Vasin KS, Kutsev SI
Int J Mol Sci 2020 Nov 6;21(21) doi: 10.3390/ijms21218328. PMID: 33171981Free PMC Article
Kalayinia S, Shahani T, Biglari A, Maleki M, Rokni-Zadeh H, Razavi Z, Mahdieh N
J Clin Lab Anal 2019 Feb;33(2):e22663. Epub 2018 Sep 26 doi: 10.1002/jcla.22663. PMID: 30259573Free PMC Article
Wang Y, Cao L, Liang D, Meng L, Wu Y, Qiao F, Ji X, Luo C, Zhang J, Xu T, Yu B, Wang L, Wang T, Pan Q, Ma D, Hu P, Xu Z
Am J Obstet Gynecol 2018 Feb;218(2):244.e1-244.e17. Epub 2017 Nov 8 doi: 10.1016/j.ajog.2017.10.225. PMID: 29128521

Recent systematic reviews

Yamashita H, Arakawa Y, Terada Y, Takeuchi Y, Mineharu Y, Sumiyoshi S, Tokunaga S, Nakajima K, Kawabata N, Tanaka K, Tanji M, Umeda K, Minamiguchi S, Ogawa S, Haga H, Takita J, Miyamoto S
Brain Tumor Pathol 2022 Oct;39(4):232-239. Epub 2022 Jun 24 doi: 10.1007/s10014-022-00440-7. PMID: 35750988
Adams LE, Chapman A, Cormack CL, Campbell K, Ebanks AH, Annibale DJ, Hollinger LE
J Pediatr Surg 2022 Sep;57(9):24-28. Epub 2021 Nov 20 doi: 10.1016/j.jpedsurg.2021.11.005. PMID: 34865829
Soukkhaphone B, Lindsay C, Langlois S, Little J, Rousseau F, Reinharz D
Mol Genet Genomic Med 2021 May;9(5):e1654. Epub 2021 Mar 23 doi: 10.1002/mgg3.1654. PMID: 33755350Free PMC Article
Li X, Li X, Sun Y, Han J, Ma H, Sun Y
Reprod Sci 2021 Sep;28(9):2413-2421. Epub 2021 Jan 6 doi: 10.1007/s43032-020-00387-0. PMID: 33409872
Xu HB, Yang H, Liu G, Chen H
Genet Mol Res 2014 Oct 31;13(4):9115-21. doi: 10.4238/2014.October.31.27. PMID: 25366803

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