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Congenital chromosomal disease

MedGen UID:
3441
•Concept ID:
C0008626
•
Disease or Syndrome
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)
 
Monarch Initiative: MONDO:0019040
Orphanet: ORPHA68335

Definition

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

Term Hierarchy

Professional guidelines

PubMed

Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226.
American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics; Committee on Genetics; Society for Maternal-Fetal Medicine
Obstet Gynecol 2020 Oct;136(4):e48-e69. doi: 10.1097/AOG.0000000000004084. PMID: 32804883
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH
Am J Hum Genet 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. PMID: 20466091Free PMC Article

Curated

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

Recent clinical studies

Etiology

Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE Jr, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder JL Jr, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A
Am J Med Genet A 2023 Aug;191(8):2015-2044. Epub 2023 Jul 1 doi: 10.1002/ajmg.a.63312. PMID: 37392087Free PMC Article
Chances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative Review.
Bedei I, Wolter A, Weber A, Signore F, Axt-Fliedner R
Genes (Basel) 2021 Mar 29;12(4) doi: 10.3390/genes12040501. PMID: 33805390Free PMC Article
Optical Genome Mapping as a Next-Generation Cytogenomic Tool for Detection of Structural and Copy Number Variations for Prenatal Genomic Analyses.
Sahajpal NS, Barseghyan H, Kolhe R, Hastie A, Chaubey A
Genes (Basel) 2021 Mar 11;12(3) doi: 10.3390/genes12030398. PMID: 33799648Free PMC Article
Sex chromosome aneuploidies.
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
Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies.
Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, Zhu Z, Lin M, Liu Q, Tian Z, Zhang H, Chen F, Lau TK, Zhao L, Yi X, Yin Y, Wang W
Ultrasound Obstet Gynecol 2015 May;45(5):530-8. Epub 2015 Apr 8 doi: 10.1002/uog.14792. PMID: 25598039

Diagnosis

Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE Jr, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder JL Jr, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A
Am J Med Genet A 2023 Aug;191(8):2015-2044. Epub 2023 Jul 1 doi: 10.1002/ajmg.a.63312. PMID: 37392087Free PMC Article
Optical genome mapping enables constitutional chromosomal aberration detection.
Mantere T, Neveling K, Pebrel-Richard C, Benoist M, van der Zande G, Kater-Baats E, Baatout I, van Beek R, Yammine T, Oorsprong M, Hsoumi F, Olde-Weghuis D, Majdali W, Vermeulen S, Pauper M, Lebbar A, Stevens-Kroef M, Sanlaville D, Dupont JM, Smeets D, Hoischen A, Schluth-Bolard C, El Khattabi L
Am J Hum Genet 2021 Aug 5;108(8):1409-1422. Epub 2021 Jul 7 doi: 10.1016/j.ajhg.2021.05.012. PMID: 34237280Free PMC Article
Preimplantation Genetic Testing for Chromosomal Abnormalities: Aneuploidy, Mosaicism, and Structural Rearrangements.
Viotti M
Genes (Basel) 2020 May 29;11(6) doi: 10.3390/genes11060602. PMID: 32485954Free PMC Article
Sex chromosome aneuploidies.
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
48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome.
Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P
Acta Paediatr 2011 Jun;100(6):851-60. Epub 2011 Apr 8 doi: 10.1111/j.1651-2227.2011.02235.x. PMID: 21342258Free PMC Article

Therapy

Current and future therapies for haemophilia-Beyond factor replacement therapies.
Nogami K, Shima M
Br J Haematol 2023 Jan;200(1):23-34. Epub 2022 Jul 23 doi: 10.1111/bjh.18379. PMID: 35869698
Neuromuscular exercise in children with Down Syndrome: a systematic review.
Rodríguez-Grande EI, Vargas-Pinilla OC, Torres-Narvaez MR, Rodríguez-Malagón N
Sci Rep 2022 Sep 2;12(1):14988. doi: 10.1038/s41598-022-19086-8. PMID: 36056081Free PMC Article
Sex chromosome aneuploidies.
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
Angelman Syndrome.
Margolis SS, Sell GL, Zbinden MA, Bird LM
Neurotherapeutics 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. PMID: 26040994Free PMC Article
Chromosomal microarray versus karyotyping for prenatal diagnosis.
Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L
N Engl J Med 2012 Dec 6;367(23):2175-84. doi: 10.1056/NEJMoa1203382. PMID: 23215555Free PMC Article

Prognosis

Triploid pregnancy-Clinical implications.
Massalska D, Bijok J, Kucińska-Chahwan A, Zimowski JG, Ozdarska K, Panek G, Roszkowski T
Clin Genet 2021 Oct;100(4):368-375. Epub 2021 Jun 1 doi: 10.1111/cge.14003. PMID: 34031868
Testicular cancer.
Cheng L, Albers P, Berney DM, Feldman DR, Daugaard G, Gilligan T, Looijenga LHJ
Nat Rev Dis Primers 2018 Oct 5;4(1):29. doi: 10.1038/s41572-018-0029-0. PMID: 30291251
Prenatal diagnosis by chromosomal microarray analysis.
Levy B, Wapner R
Fertil Steril 2018 Feb;109(2):201-212. doi: 10.1016/j.fertnstert.2018.01.005. PMID: 29447663Free PMC Article
Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies.
Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, Zhu Z, Lin M, Liu Q, Tian Z, Zhang H, Chen F, Lau TK, Zhao L, Yi X, Yin Y, Wang W
Ultrasound Obstet Gynecol 2015 May;45(5):530-8. Epub 2015 Apr 8 doi: 10.1002/uog.14792. PMID: 25598039
Pallister-Killian syndrome.
Izumi K, Krantz ID
Am J Med Genet C Semin Med Genet 2014 Dec;166C(4):406-13. Epub 2014 Nov 25 doi: 10.1002/ajmg.c.31423. PMID: 25425112

Clinical prediction guides

Fetal Screening for Chromosomal Abnormalities.
Fiorentino DG, Hughes F
Neoreviews 2021 Dec 1;22(12):e805-e818. doi: 10.1542/neo.22-12-e805. PMID: 34850145
Triploid pregnancy-Clinical implications.
Massalska D, Bijok J, Kucińska-Chahwan A, Zimowski JG, Ozdarska K, Panek G, Roszkowski T
Clin Genet 2021 Oct;100(4):368-375. Epub 2021 Jun 1 doi: 10.1111/cge.14003. PMID: 34031868
Prenatal diagnosis by chromosomal microarray analysis.
Levy B, Wapner R
Fertil Steril 2018 Feb;109(2):201-212. doi: 10.1016/j.fertnstert.2018.01.005. PMID: 29447663Free PMC Article
Diagnosis and clinical management of duplications and deletions.
Capalbo A, Rienzi L, Ubaldi FM
Fertil Steril 2017 Jan;107(1):12-18. doi: 10.1016/j.fertnstert.2016.11.002. PMID: 28040093
Clinical phenotype of the recurrent 1q21.1 copy-number variant.
Bernier R, Steinman KJ, Reilly B, Wallace AS, Sherr EH, Pojman N, Mefford HC, Gerdts J, Earl R, Hanson E, Goin-Kochel RP, Berry L, Kanne S, Snyder LG, Spence S, Ramocki MB, Evans DW, Spiro JE, Martin CL, Ledbetter DH, Chung WK; Simons VIP consortium
Genet Med 2016 Apr;18(4):341-9. Epub 2015 Jun 11 doi: 10.1038/gim.2015.78. PMID: 26066539Free PMC Article

Recent systematic reviews

Global prevalence of Rett syndrome: systematic review and meta-analysis.
Petriti U, Dudman DC, Scosyrev E, Lopez-Leon S
Syst Rev 2023 Jan 16;12(1):5. doi: 10.1186/s13643-023-02169-6. PMID: 36642718Free PMC Article
Neurologic complications of Down syndrome: a systematic review.
Santoro JD, Pagarkar D, Chu DT, Rosso M, Paulsen KC, Levitt P, Rafii MS
J Neurol 2021 Dec;268(12):4495-4509. Epub 2020 Sep 12 doi: 10.1007/s00415-020-10179-w. PMID: 32920658
Physical therapy in Down syndrome: systematic review and meta-analysis.
Ruiz-González L, Lucena-Antón D, Salazar A, Martín-Valero R, Moral-Munoz JA
J Intellect Disabil Res 2019 Aug;63(8):1041-1067. Epub 2019 Feb 20 doi: 10.1111/jir.12606. PMID: 30788876
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803
Epidemiology of fragile X syndrome: a systematic review and meta-analysis.
Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J
Am J Med Genet A 2014 Jul;164A(7):1648-58. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36511. PMID: 24700618

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    Clinical resources

    Practice guidelines

    • PubMed
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    Curated

    • NSGC, 2021
      National Society of Genetic Counselors Position Statement: Prenatal Cell-Free DNA Screening

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    Reviews

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