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Chromosome 22q13 duplication syndrome

MedGen UID:
816174
Concept ID:
C3809844
Disease or Syndrome
Synonym: CHROMOSOME 22q13 DUPLICATION SYNDROME
 
Monarch Initiative: MONDO:0014235
OMIM®: 615538

Clinical features

From HPO
Bipolar affective disorder
MedGen UID:
2649
Concept ID:
C0005586
Mental or Behavioral Dysfunction
Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods.
Polyphagia
MedGen UID:
9369
Concept ID:
C0020505
Finding
A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat.
Impulsivity
MedGen UID:
43850
Concept ID:
C0021125
Mental or Behavioral Dysfunction
Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in self-harming behavior when under emotional distress.
Status epilepticus
MedGen UID:
11586
Concept ID:
C0038220
Disease or Syndrome
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.
Emotional lability
MedGen UID:
39319
Concept ID:
C0085633
Mental or Behavioral Dysfunction
Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances.
Short attention span
MedGen UID:
82652
Concept ID:
C0262630
Finding
Reduced attention span characterized by distractibility and impulsivity.
Bilateral tonic-clonic seizure
MedGen UID:
141670
Concept ID:
C0494475
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Attention deficit hyperactivity disorder
MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.
Upslanted palpebral fissure
MedGen UID:
98390
Concept ID:
C0423109
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Epicanthus inversus
MedGen UID:
224913
Concept ID:
C1303003
Finding
A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus.
Narrow nasal ridge
MedGen UID:
373404
Concept ID:
C1837761
Finding
Decreased width of the nasal ridge.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).

Professional guidelines

PubMed

Shi P, Wang C, Zheng Y, Kong X
BMC Med Genomics 2021 Mar 23;14(1):88. doi: 10.1186/s12920-021-00940-z. PMID: 33757501Free PMC Article
Xu N, Lv H, Yang T, Du X, Sun Y, Xiao B, Fan Y, Luo X, Zhan Y, Wang L, Li F, Yu Y
Orphanet J Rare Dis 2020 Nov 30;15(1):335. doi: 10.1186/s13023-020-01592-5. PMID: 33256793Free PMC Article
Fu F, Chen F, Li R, Zhang Y, Pan M, Li D, Liao C
Nephrol Dial Transplant 2016 Oct;31(10):1693-8. Epub 2016 Feb 29 doi: 10.1093/ndt/gfv465. PMID: 26932690

Recent clinical studies

Etiology

Xu N, Lv H, Yang T, Du X, Sun Y, Xiao B, Fan Y, Luo X, Zhan Y, Wang L, Li F, Yu Y
Orphanet J Rare Dis 2020 Nov 30;15(1):335. doi: 10.1186/s13023-020-01592-5. PMID: 33256793Free PMC Article
Łaczmańska I, Stembalska A, Złocińska M, Kozłowska J, Skiba P, Pesz K, Ślęzak R, Śmigiel R, Jakubiak A, Misiak B, Sąsiadek MM
Adv Clin Exp Med 2020 Jan;29(1):101-106. doi: 10.17219/acem/112609. PMID: 31990460
Sarasua SM, Boccuto L, Sharp JL, Dwivedi A, Chen CF, Rollins JD, Rogers RC, Phelan K, DuPont BR
Hum Genet 2014 Jul;133(7):847-59. Epub 2014 Jan 31 doi: 10.1007/s00439-014-1423-7. PMID: 24481935
Rosti RO, Sadek AA, Vaux KK, Gleeson JG
Dev Med Child Neurol 2014 Jan;56(1):12-8. Epub 2013 Oct 1 doi: 10.1111/dmcn.12278. PMID: 24116704
Toruner GA, Kurvathi R, Sugalski R, Shulman L, Twersky S, Pearson PG, Tozzi R, Schwalb MN, Wallerstein R
Clin Genet 2009 Jul;76(1):63-8. doi: 10.1111/j.1399-0004.2009.01161.x. PMID: 19659761

Diagnosis

Bertani-Torres W, Serey-Gaut M, de Oliveira J, Bole C, Parisot M, Nistschké P, Maurin ML, Lapierre JM, Loundon N, Belhous K, Bondurand N, Marlin S, Pingault V
Am J Med Genet A 2023 Dec;191(12):2813-2818. Epub 2023 Aug 2 doi: 10.1002/ajmg.a.63362. PMID: 37533297
Shi P, Wang C, Zheng Y, Kong X
BMC Med Genomics 2021 Mar 23;14(1):88. doi: 10.1186/s12920-021-00940-z. PMID: 33757501Free PMC Article
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
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
Rosti RO, Sadek AA, Vaux KK, Gleeson JG
Dev Med Child Neurol 2014 Jan;56(1):12-8. Epub 2013 Oct 1 doi: 10.1111/dmcn.12278. PMID: 24116704

Therapy

Johannessen M, Haugen IB, Bakken TL, Braaten Ø
BMJ Case Rep 2019 Nov 2;12(11) doi: 10.1136/bcr-2018-228258. PMID: 31678916Free PMC Article
Giannakopoulos A, Fryssira H, Tzetis M, Xaidara A, Kanaka-Gantenbein C
J Pediatr Endocrinol Metab 2016 Nov 1;29(11):1307-1311. doi: 10.1515/jpem-2015-0484. PMID: 27235670

Prognosis

Rosti RO, Sadek AA, Vaux KK, Gleeson JG
Dev Med Child Neurol 2014 Jan;56(1):12-8. Epub 2013 Oct 1 doi: 10.1111/dmcn.12278. PMID: 24116704
Karcaaltincaba D, Ceylaner S, Ceylaner G, Dalkilic S, Karli-Oguz K, Kandemir O
Genet Couns 2010;21(1):19-24. PMID: 20420025
Toruner GA, Kurvathi R, Sugalski R, Shulman L, Twersky S, Pearson PG, Tozzi R, Schwalb MN, Wallerstein R
Clin Genet 2009 Jul;76(1):63-8. doi: 10.1111/j.1399-0004.2009.01161.x. PMID: 19659761
Tyshchenko NA, Riegel M, Evseenkova EG, Zerova TE, Gorovenko NG, Schinzel A
Eur J Med Genet 2007 Mar-Apr;50(2):128-32. Epub 2006 Nov 10 doi: 10.1016/j.ejmg.2006.10.008. PMID: 17174617

Clinical prediction guides

Goetzinger L, Starks RD, Dillahunt K, Major H, Nagy JM, Sidhu A
Mol Genet Genomic Med 2021 Aug;9(8):e1755. Epub 2021 Jul 16 doi: 10.1002/mgg3.1755. PMID: 34268909Free PMC Article
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
Trabacca A, Losito L, De Rinaldis M, Gennaro L
J Child Neurol 2011 Feb;26(2):235-8. Epub 2010 Oct 4 doi: 10.1177/0883073810381444. PMID: 20921566
Toruner GA, Kurvathi R, Sugalski R, Shulman L, Twersky S, Pearson PG, Tozzi R, Schwalb MN, Wallerstein R
Clin Genet 2009 Jul;76(1):63-8. doi: 10.1111/j.1399-0004.2009.01161.x. PMID: 19659761
Koolen DA, Reardon W, Rosser EM, Lacombe D, Hurst JA, Law CJ, Bongers EM, van Ravenswaaij-Arts CM, Leisink MA, van Kessel AG, Veltman JA, de Vries BB
Eur J Hum Genet 2005 Sep;13(9):1019-24. doi: 10.1038/sj.ejhg.5201456. PMID: 15986041

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