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17p11.2 Monosomy

MedGen UID:
775684
•Concept ID:
C3661485
•
Cell or Molecular Dysfunction

Professional guidelines

PubMed

Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.
Sabus A, Feinstein J, Romani P, Goldson E, Blackmer A
Pharmacotherapy 2019 Jun;39(6):645-664. Epub 2019 Mar 27 doi: 10.1002/phar.2238. PMID: 30793794Free PMC Article
Optimal management of the young patient CLL patient.
Allan JN, Furman RR
Best Pract Res Clin Haematol 2018 Mar;31(1):73-82. Epub 2017 Nov 20 doi: 10.1016/j.beha.2017.10.012. PMID: 29452669
Management of Sleep Disorders in Children With Neurodevelopmental Disorders: A Review.
Blackmer AB, Feinstein JA
Pharmacotherapy 2016 Jan;36(1):84-98. doi: 10.1002/phar.1686. PMID: 26799351

Recent clinical studies

Etiology

Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.
Linders CC, van Eeghen AM, Zinkstok JR, van den Boogaard MJ, Boot E
Genes (Basel) 2023 Jul 25;14(8) doi: 10.3390/genes14081514. PMID: 37628566Free PMC Article
Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.
Sabus A, Feinstein J, Romani P, Goldson E, Blackmer A
Pharmacotherapy 2019 Jun;39(6):645-664. Epub 2019 Mar 27 doi: 10.1002/phar.2238. PMID: 30793794Free PMC Article
An Update on Common Chromosome Microdeletion and Microduplication Syndromes.
Goldenberg P
Pediatr Ann 2018 May 1;47(5):e198-e203. doi: 10.3928/19382359-20180419-01. PMID: 29750287
How should we sequence and combine novel therapies in CLL?
Davids MS
Hematology Am Soc Hematol Educ Program 2017 Dec 8;2017(1):346-353. doi: 10.1182/asheducation-2017.1.346. PMID: 29222277Free PMC Article
Management of Sleep Disorders in Children With Neurodevelopmental Disorders: A Review.
Blackmer AB, Feinstein JA
Pharmacotherapy 2016 Jan;36(1):84-98. doi: 10.1002/phar.1686. PMID: 26799351

Diagnosis

Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders.
Rinaldi B, Villa R, Sironi A, Garavelli L, Finelli P, Bedeschi MF
Genes (Basel) 2022 Feb 11;13(2) doi: 10.3390/genes13020335. PMID: 35205380Free PMC Article
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P
Genome Med 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. PMID: 30819258Free PMC Article
Management of Sleep Disorders in Children With Neurodevelopmental Disorders: A Review.
Blackmer AB, Feinstein JA
Pharmacotherapy 2016 Jan;36(1):84-98. doi: 10.1002/phar.1686. PMID: 26799351
Smith-Magenis syndrome.
Elsea SH, Girirajan S
Eur J Hum Genet 2008 Apr;16(4):412-21. Epub 2008 Jan 30 doi: 10.1038/sj.ejhg.5202009. PMID: 18231123
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
Gropman AL, Duncan WC, Smith AC
Pediatr Neurol 2006 May;34(5):337-50. doi: 10.1016/j.pediatrneurol.2005.08.018. PMID: 16647992

Therapy

Management of Sleep Disturbances Associated with Smith-Magenis Syndrome.
Kaplan KA, Elsea SH, Potocki L
CNS Drugs 2020 Jul;34(7):723-730. doi: 10.1007/s40263-020-00733-5. PMID: 32495322
Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.
Sabus A, Feinstein J, Romani P, Goldson E, Blackmer A
Pharmacotherapy 2019 Jun;39(6):645-664. Epub 2019 Mar 27 doi: 10.1002/phar.2238. PMID: 30793794Free PMC Article
Selecting Frontline Therapy for CLL in 2018.
Jain N
Hematology Am Soc Hematol Educ Program 2018 Nov 30;2018(1):242-247. doi: 10.1182/asheducation-2018.1.242. PMID: 30504317Free PMC Article
Efficacy and Safety of Pediatric Prolonged-Release Melatonin for Insomnia in Children With Autism Spectrum Disorder.
Gringras P, Nir T, Breddy J, Frydman-Marom A, Findling RL
J Am Acad Child Adolesc Psychiatry 2017 Nov;56(11):948-957.e4. Epub 2017 Sep 19 doi: 10.1016/j.jaac.2017.09.414. PMID: 29096777
Management of Sleep Disorders in Children With Neurodevelopmental Disorders: A Review.
Blackmer AB, Feinstein JA
Pharmacotherapy 2016 Jan;36(1):84-98. doi: 10.1002/phar.1686. PMID: 26799351

Prognosis

A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis.
Carvalho LML, Jorge AAL, Bertola DR, Krepischi ACV, Rosenberg C
Curr Obes Rep 2024 Jun;13(2):313-337. Epub 2024 Jan 26 doi: 10.1007/s13679-023-00543-y. PMID: 38277088
Behavior and sleep disturbance in Smith-Magenis syndrome.
Shayota BJ, Elsea SH
Curr Opin Psychiatry 2019 Mar;32(2):73-78. doi: 10.1097/YCO.0000000000000474. PMID: 30557269Free PMC Article
How should we sequence and combine novel therapies in CLL?
Davids MS
Hematology Am Soc Hematol Educ Program 2017 Dec 8;2017(1):346-353. doi: 10.1182/asheducation-2017.1.346. PMID: 29222277Free PMC Article
Present and future of personalized medicine in CLL.
Montserrat E, Bauman T, Delgado J
Best Pract Res Clin Haematol 2016 Mar;29(1):100-110. Epub 2016 Aug 12 doi: 10.1016/j.beha.2016.08.009. PMID: 27742064
Deletion 22q13.3 syndrome.
Phelan MC
Orphanet J Rare Dis 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14. PMID: 18505557Free PMC Article

Clinical prediction guides

Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.
Linders CC, van Eeghen AM, Zinkstok JR, van den Boogaard MJ, Boot E
Genes (Basel) 2023 Jul 25;14(8) doi: 10.3390/genes14081514. PMID: 37628566Free PMC Article
Sleep disturbances and behavior in Smith-Magenis syndrome.
Garayzábal E, Hidalgo I, Miranda de Souza ALD, da Silva NC, Giacheti CM, Pinato L
Res Dev Disabil 2022 Sep;128:104286. Epub 2022 Jun 29 doi: 10.1016/j.ridd.2022.104286. PMID: 35779287
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P
Genome Med 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. PMID: 30819258Free PMC Article
Social phenotypes in neurogenetic syndromes.
Feinstein C, Singh S
Child Adolesc Psychiatr Clin N Am 2007 Jul;16(3):631-47. doi: 10.1016/j.chc.2007.03.006. PMID: 17562583
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
Gropman AL, Duncan WC, Smith AC
Pediatr Neurol 2006 May;34(5):337-50. doi: 10.1016/j.pediatrneurol.2005.08.018. PMID: 16647992

Recent systematic reviews

Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.
Hutchison DM, Duffens A, Yale K, Park A, Cardenas K, Mesinkovska NA
J Eur Acad Dermatol Venereol 2022 Apr;36(4):536-546. Epub 2021 Dec 31 doi: 10.1111/jdv.17877. PMID: 34919300
Hidradenitis suppurativa and chromosomal abnormalities: a case report and systematic review of the literature.
Shah M, Sachdeva M, Melendez-Gonzalez M, Piguet V, Sayed C
Int J Dermatol 2021 Mar;60(3):261-271. Epub 2020 Aug 9 doi: 10.1111/ijd.15111. PMID: 33599294
Endogenous melatonin and sleep in individuals with Rare Genetic Neurodevelopmental Disorders (RGND): A systematic review.
Woodford EC, McLay L, France KG, Blampied NM, Gibbs R, Swan CE, Eggleston M
Sleep Med Rev 2021 Jun;57:101433. Epub 2021 Jan 17 doi: 10.1016/j.smrv.2021.101433. PMID: 33561678

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