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22q Telomere Deletion Syndrome

MedGen UID:
397089
•Concept ID:
C2699200
•
Disease or Syndrome

Definition

A genetic syndrome caused by terminal 22q13 microdeletions. It is characterized by developmental delay and delayed or absent speech. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV22q Telomere Deletion Syndrome

Recent clinical studies

Etiology

Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.
Ziats CA, Jain L, McLarney B, Vandenboom E, DuPont BR, Rogers C, Sarasua S, Nevado J, Cordisco EL, Phelan K, Boccuto L
Eur J Med Genet 2020 Nov;63(11):104042. Epub 2020 Aug 19 doi: 10.1016/j.ejmg.2020.104042. PMID: 32822873
Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.
Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE, Thurm A
Eur J Hum Genet 2018 Mar;26(3):293-302. Epub 2018 Jan 22 doi: 10.1038/s41431-017-0042-x. PMID: 29358616Free PMC Article

Diagnosis

Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.
Ziats CA, Jain L, McLarney B, Vandenboom E, DuPont BR, Rogers C, Sarasua S, Nevado J, Cordisco EL, Phelan K, Boccuto L
Eur J Med Genet 2020 Nov;63(11):104042. Epub 2020 Aug 19 doi: 10.1016/j.ejmg.2020.104042. PMID: 32822873
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant.
Bonaglia MC, Giorda R, Beri S, Peters GB, Kirk EP, Hung D, Ciccone R, Gottardi G, Zuffardi O
Eur J Med Genet 2008 Mar-Apr;51(2):148-55. Epub 2007 Dec 8 doi: 10.1016/j.ejmg.2007.11.005. PMID: 18226592
Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion.
McClarren J, Donnenfeld AE, Ravnan JB
Prenat Diagn 2006 Dec;26(13):1212-5. doi: 10.1002/pd.1590. PMID: 17099929
Cryptic subtelomeric translocations in the 22q13 deletion syndrome.
Praphanphoj V, Goodman BK, Thomas GH, Raymond GV
J Med Genet 2000 Jan;37(1):58-61. doi: 10.1136/jmg.37.1.58. PMID: 10633138Free PMC Article
Two 22q telomere deletions serendipitously detected by FISH.
Precht KS, Lese CM, Spiro RP, Huttenlocher PR, Johnston KM, Baker JC, Christian SL, Kittikamron K, Ledbetter DH
J Med Genet 1998 Nov;35(11):939-42. doi: 10.1136/jmg.35.11.939. PMID: 9832042Free PMC Article

Therapy

Isolation and characterization of a novel gene deleted in DiGeorge syndrome.
Kurahashi H, Akagi K, Inazawa J, Ohta T, Niikawa N, Kayatani F, Sano T, Okada S, Nishisho I
Hum Mol Genet 1995 Apr;4(4):541-9. doi: 10.1093/hmg/4.4.541. PMID: 7633402

Prognosis

Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.
Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE, Thurm A
Eur J Hum Genet 2018 Mar;26(3):293-302. Epub 2018 Jan 22 doi: 10.1038/s41431-017-0042-x. PMID: 29358616Free PMC Article
Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion.
McClarren J, Donnenfeld AE, Ravnan JB
Prenat Diagn 2006 Dec;26(13):1212-5. doi: 10.1002/pd.1590. PMID: 17099929

Clinical prediction guides

Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.
Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE, Thurm A
Eur J Hum Genet 2018 Mar;26(3):293-302. Epub 2018 Jan 22 doi: 10.1038/s41431-017-0042-x. PMID: 29358616Free PMC Article
Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant.
Bonaglia MC, Giorda R, Beri S, Peters GB, Kirk EP, Hung D, Ciccone R, Gottardi G, Zuffardi O
Eur J Med Genet 2008 Mar-Apr;51(2):148-55. Epub 2007 Dec 8 doi: 10.1016/j.ejmg.2007.11.005. PMID: 18226592

Recent systematic reviews

Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.
Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE, Thurm A
Eur J Hum Genet 2018 Mar;26(3):293-302. Epub 2018 Jan 22 doi: 10.1038/s41431-017-0042-x. PMID: 29358616Free PMC Article

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