U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

17q21 Microdeletion Syndrome

MedGen UID:
397359
•Concept ID:
C2699198
•
Disease or Syndrome

Definition

A genetic syndrome caused by microdeletions in chromosome 17q21. The microdeletions encompass the MAPT and CRHR1 genes. It is characterized by mental retardation, hypotonia, distinctive facial features (long face, low-set ears, and pear-shaped nose), friendly behavior, and heart defects. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV17q21 Microdeletion Syndrome

Professional guidelines

PubMed

Aberrant right subclavian artery leading to prenatal diagnosis of Koolen de Vries syndrome.
Parthenis C, Panagopoulos P
Ginekol Pol 2021;92(8):597-598. doi: 10.5603/GP.a2021.0157. PMID: 34541634
Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series.
Jing XY, Huang LY, Zhen L, Han J, Li DZ
J Obstet Gynaecol 2019 Apr;39(3):323-327. Epub 2019 Jan 11 doi: 10.1080/01443615.2018.1519693. PMID: 30634886

Recent clinical studies

Etiology

Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome.
Prat D, Katowitz WR, Strong A, Katowitz JA
Ophthalmic Genet 2021 Apr;42(2):186-188. Epub 2021 Jan 3 doi: 10.1080/13816810.2020.1868012. PMID: 33393407
Atypical Café-au-Lait Macules in a Patient with Koolen-de Vries Syndrome (17q21.31 Microdeletion Syndrome).
Han AM, Kusari A, Soeprono F, Eichenfield LF
Pediatr Dermatol 2019 Jul;36(4):e97-e98. Epub 2019 May 24 doi: 10.1111/pde.13849. PMID: 31125459
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE
Epilepsia 2017 Jun;58(6):1085-1094. Epub 2017 Apr 25 doi: 10.1111/epi.13746. PMID: 28440867
KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.
Moreno-Igoa M, Hernández-Charro B, Bengoa-Alonso A, Pérez-Juana-del-Casal A, Romero-Ibarra C, Nieva-Echebarria B, Ramos-Arroyo MA
BMC Med Genet 2015 Aug 22;16:68. doi: 10.1186/s12881-015-0211-0. PMID: 26293599Free PMC Article
Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.
Koolen DA, Dupont J, de Leeuw N, Vissers LE, van den Heuvel SP, Bradbury A, Steer J, de Brouwer AP, Ten Kate LP, Nillesen WM, de Vries BB, Parker MJ
Eur J Hum Genet 2012 Jul;20(7):729-33. Epub 2012 Feb 1 doi: 10.1038/ejhg.2012.1. PMID: 22293690Free PMC Article

Diagnosis

The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review.
Karamik G, Tuysuz B, Isik E, Yilmaz A, Alanay Y, Sunamak EC, Durmusalioglu EA, Ozkinay F, Cetin GO, Ozturk N, Mihci E, Nur B
Am J Med Genet A 2023 Jul;191(7):1814-1825. Epub 2023 Apr 13 doi: 10.1002/ajmg.a.63207. PMID: 37053206
Atypical Café-au-Lait Macules in a Patient with Koolen-de Vries Syndrome (17q21.31 Microdeletion Syndrome).
Han AM, Kusari A, Soeprono F, Eichenfield LF
Pediatr Dermatol 2019 Jul;36(4):e97-e98. Epub 2019 May 24 doi: 10.1111/pde.13849. PMID: 31125459
If not Angelman, what is it? A review of Angelman-like syndromes.
Tan WH, Bird LM, Thibert RL, Williams CA
Am J Med Genet A 2014 Apr;164A(4):975-92. doi: 10.1002/ajmg.a.36416. PMID: 24779060
A copy number variation morbidity map of developmental delay.
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE
Nat Genet 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. PMID: 21841781Free PMC Article
Novel microdeletion syndromes detected by chromosome microarrays.
Slavotinek AM
Hum Genet 2008 Aug;124(1):1-17. Epub 2008 May 30 doi: 10.1007/s00439-008-0513-9. PMID: 18512078

Therapy

The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE
Epilepsia 2017 Jun;58(6):1085-1094. Epub 2017 Apr 25 doi: 10.1111/epi.13746. PMID: 28440867

Prognosis

Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome.
Prat D, Katowitz WR, Strong A, Katowitz JA
Ophthalmic Genet 2021 Apr;42(2):186-188. Epub 2021 Jan 3 doi: 10.1080/13816810.2020.1868012. PMID: 33393407
Atypical Café-au-Lait Macules in a Patient with Koolen-de Vries Syndrome (17q21.31 Microdeletion Syndrome).
Han AM, Kusari A, Soeprono F, Eichenfield LF
Pediatr Dermatol 2019 Jul;36(4):e97-e98. Epub 2019 May 24 doi: 10.1111/pde.13849. PMID: 31125459
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia.
Morgan AT, Haaften LV, van Hulst K, Edley C, Mei C, Tan TY, Amor D, Fisher SE, Koolen DA
Eur J Hum Genet 2018 Jan;26(1):75-84. Epub 2017 Dec 11 doi: 10.1038/s41431-017-0035-9. PMID: 29225339Free PMC Article
Preimplantation genetic risk reduction: a new dilemma in the era of chromosomal microarrays and exome sequencing.
Altarescu G, Beeri R, Lazer-Derbeko G, Eldar-Geva T, Steinberg A, Levy-Lahad E, Renbaum P
Reprod Biomed Online 2015 Nov;31(5):706-10. Epub 2015 Jul 17 doi: 10.1016/j.rbmo.2015.07.002. PMID: 26380867
De novo 15q13.3 microdeletion with cryptogenic West syndrome.
Lacaze E, Gruchy N, Penniello-Valette MJ, Plessis G, Richard N, Decamp M, Mittre H, Leporrier N, Andrieux J, Kottler ML, Gerard M
Am J Med Genet A 2013 Oct;161A(10):2582-7. Epub 2013 Aug 8 doi: 10.1002/ajmg.a.36085. PMID: 23929658

Clinical prediction guides

The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
Myers KA, Mandelstam SA, Ramantani G, Rushing EJ, de Vries BB, Koolen DA, Scheffer IE
Epilepsia 2017 Jun;58(6):1085-1094. Epub 2017 Apr 25 doi: 10.1111/epi.13746. PMID: 28440867
Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome.
Egger JI, Wingbermühle E, Verhoeven WM, Dijkman M, Radke S, de Bruijn ER, de Vries B, Kessels RP, Koolen D
Am J Med Genet A 2013 Jan;161A(1):21-6. Epub 2012 Nov 20 doi: 10.1002/ajmg.a.35652. PMID: 23169757
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.
Itsara A, Vissers LE, Steinberg KM, Meyer KJ, Zody MC, Koolen DA, de Ligt J, Cuppen E, Baker C, Lee C, Graves TA, Wilson RK, Jenkins RB, Veltman JA, Eichler EE
Am J Hum Genet 2012 Apr 6;90(4):599-613. doi: 10.1016/j.ajhg.2012.02.013. PMID: 22482802Free PMC Article
A copy number variation morbidity map of developmental delay.
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE
Nat Genet 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. PMID: 21841781Free PMC Article
17q21.31 microdeletion syndrome: further expanding the clinical phenotype.
Sharkey FH, Morrison N, Murray R, Iremonger J, Stephen J, Maher E, Tolmie J, Jackson AP
Cytogenet Genome Res 2009;127(1):61-6. Epub 2010 Jan 27 doi: 10.1159/000279260. PMID: 20110647

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...