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Chromosome 22q11.2 microduplication syndrome

MedGen UID:
436417
Concept ID:
C2675369
Disease or Syndrome
Synonyms: 22q11.2 Duplication; 22q11.2 duplication syndrome; 22q11.2 microduplication syndrome; Chromosome 22q11.2 duplication syndrome
SNOMED CT: Chromosome 22q11.2 microduplication syndrome (699311001); 22q11.2 duplication (699311001); Chromosome 22q11.2 duplication syndrome (699311001); 22q11.2 duplication syndrome (699311001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0012020
OMIM®: 608363
Orphanet: ORPHA1727

Definition

22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2.

The features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the duplication have no apparent physical or intellectual disabilities. [from MedlinePlus Genetics]

Clinical features

From HPO
Abnormal cardiovascular system morphology
MedGen UID:
892473
Concept ID:
C4049796
Anatomical Abnormality
Any structural anomaly of the heart and blood vessels.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Abnormal pinna morphology
MedGen UID:
167800
Concept ID:
C0857379
Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
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.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Specific learning disability
MedGen UID:
871302
Concept ID:
C4025790
Mental or Behavioral Dysfunction
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Hypernasal speech
MedGen UID:
107884
Concept ID:
C0566620
Finding
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
Velopharyngeal insufficiency
MedGen UID:
52992
Concept ID:
C0042454
Finding
Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Depressed nasal ridge
MedGen UID:
334631
Concept ID:
C1842876
Finding
Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromosome 22q11.2 microduplication syndrome
Follow this link to review classifications for Chromosome 22q11.2 microduplication syndrome in Orphanet.

Professional guidelines

PubMed

Dupont C, Grati FR, Choy KW, Jaillard S, Toutain J, Maurin ML, Martínez-Conejero JA, Beneteau C, Coussement A, Molina-Gomes D, Horelli-Kuitunen N, Aboura A, Tabet AC, Besseau-Ayasse J, Bessieres-Grattagliano B, Simoni G, Ayala G, Benzacken B, Vialard F
Prenat Diagn 2015 Jan;35(1):35-43. Epub 2014 Sep 16 doi: 10.1002/pd.4478. PMID: 25118001

Recent clinical studies

Etiology

Bhattarai D, McGinn DE, Crowley TB, Giunta V, Gaiser K, Zackai EH, Emanuel BS, Heimall J, Jyonouchi S, Lee J, Sun D, McDonald-McGinn DM, Sullivan KE
J Clin Immunol 2023 May;43(4):794-807. Epub 2023 Feb 3 doi: 10.1007/s10875-023-01443-5. PMID: 36735193
Drmic IE, MacKinnon Modi B, McConnell B, Jilderda S, Hoang N, Noor A, Bassett AS, Speevak M, Stavropoulos DJ, Carter MT
Am J Med Genet A 2022 Oct;188(10):2999-3008. Epub 2022 Jul 28 doi: 10.1002/ajmg.a.62916. PMID: 35899837
Bartik LE, Hughes SS, Tracy M, Feldt MM, Zhang L, Arganbright J, Kaye A
Am J Med Genet A 2022 Mar;188(3):779-787. Epub 2021 Nov 29 doi: 10.1002/ajmg.a.62577. PMID: 34845825
Di Matteo F, Bettin P, Ferrari G, Fiori M, Ciampi C, Manfredini E, Rabiolo A, Bandello F
Ophthalmic Genet 2018 Aug;39(4):532-538. Epub 2018 Jun 14 doi: 10.1080/13816810.2018.1484926. PMID: 29902089
Grande M, Jansen FA, Blumenfeld YJ, Fisher A, Odibo AO, Haak MC, Borrell A
Ultrasound Obstet Gynecol 2015 Dec;46(6):650-8. doi: 10.1002/uog.14880. PMID: 25900824

Diagnosis

Drmic IE, MacKinnon Modi B, McConnell B, Jilderda S, Hoang N, Noor A, Bassett AS, Speevak M, Stavropoulos DJ, Carter MT
Am J Med Genet A 2022 Oct;188(10):2999-3008. Epub 2022 Jul 28 doi: 10.1002/ajmg.a.62916. PMID: 35899837
Mary L, Lavillaureix A, Perrot A, Loget P, Launay E, Leborgne AS, Demurger F, Fradin M, Le Bouar G, Quélin C, Dubourg C, Pasquier L, Odent S, Belaud-Rotureau MA, Jaillard S
Eur J Med Genet 2022 Feb;65(2):104422. Epub 2022 Jan 10 doi: 10.1016/j.ejmg.2022.104422. PMID: 35026468
Bartik LE, Hughes SS, Tracy M, Feldt MM, Zhang L, Arganbright J, Kaye A
Am J Med Genet A 2022 Mar;188(3):779-787. Epub 2021 Nov 29 doi: 10.1002/ajmg.a.62577. PMID: 34845825
Di Matteo F, Bettin P, Ferrari G, Fiori M, Ciampi C, Manfredini E, Rabiolo A, Bandello F
Ophthalmic Genet 2018 Aug;39(4):532-538. Epub 2018 Jun 14 doi: 10.1080/13816810.2018.1484926. PMID: 29902089
Grande M, Jansen FA, Blumenfeld YJ, Fisher A, Odibo AO, Haak MC, Borrell A
Ultrasound Obstet Gynecol 2015 Dec;46(6):650-8. doi: 10.1002/uog.14880. PMID: 25900824

Prognosis

Wang J, Wang W, Zhou W, Zhou Y, Zhou L, Wang X, Yu B, Zhang B
Orphanet J Rare Dis 2023 Sep 8;18(1):278. doi: 10.1186/s13023-023-02903-2. PMID: 37684689Free PMC Article
Butensky A, de Rinaldis CP, Patel S, Edman S, Bailey A, McGinn DE, Zackai E, Crowley TB, McDonald-McGinn DM, Min J, Goldmuntz E
Am J Med Genet A 2021 Mar;185(3):753-758. Epub 2020 Dec 27 doi: 10.1002/ajmg.a.62032. PMID: 33369133
Steffensen EH, Hyett J, Petersen OB, Vogel I; Danish Cytogenetic Central Registry Study Group
Prenat Diagn 2021 Jan;41(2):218-225. Epub 2020 Nov 3 doi: 10.1002/pd.5851. PMID: 33080663
Vyas S, Constantino JN, Baldridge D
Cold Spring Harb Mol Case Stud 2019 Dec;5(6) Epub 2019 Dec 13 doi: 10.1101/mcs.a004291. PMID: 31836587Free PMC Article
Molck MC, Vieira TP, Simioni M, Sgardioli IC, dos Santos AP, Xavier AC, Gil-da-Silva-Lopes VL
Am J Med Genet A 2015 Jan;167A(1):215-20. Epub 2014 Oct 30 doi: 10.1002/ajmg.a.36809. PMID: 25358462

Clinical prediction guides

Bhattarai D, McGinn DE, Crowley TB, Giunta V, Gaiser K, Zackai EH, Emanuel BS, Heimall J, Jyonouchi S, Lee J, Sun D, McDonald-McGinn DM, Sullivan KE
J Clin Immunol 2023 May;43(4):794-807. Epub 2023 Feb 3 doi: 10.1007/s10875-023-01443-5. PMID: 36735193
Drmic IE, MacKinnon Modi B, McConnell B, Jilderda S, Hoang N, Noor A, Bassett AS, Speevak M, Stavropoulos DJ, Carter MT
Am J Med Genet A 2022 Oct;188(10):2999-3008. Epub 2022 Jul 28 doi: 10.1002/ajmg.a.62916. PMID: 35899837
Mary L, Lavillaureix A, Perrot A, Loget P, Launay E, Leborgne AS, Demurger F, Fradin M, Le Bouar G, Quélin C, Dubourg C, Pasquier L, Odent S, Belaud-Rotureau MA, Jaillard S
Eur J Med Genet 2022 Feb;65(2):104422. Epub 2022 Jan 10 doi: 10.1016/j.ejmg.2022.104422. PMID: 35026468
Vyas S, Constantino JN, Baldridge D
Cold Spring Harb Mol Case Stud 2019 Dec;5(6) Epub 2019 Dec 13 doi: 10.1101/mcs.a004291. PMID: 31836587Free PMC Article
Wenger TL, Miller JS, DePolo LM, de Marchena AB, Clements CC, Emanuel BS, Zackai EH, McDonald-McGinn DM, Schultz RT
Mol Autism 2016;7:27. Epub 2016 May 6 doi: 10.1186/s13229-016-0090-z. PMID: 27158440Free PMC Article

Recent systematic reviews

Mary L, Lavillaureix A, Perrot A, Loget P, Launay E, Leborgne AS, Demurger F, Fradin M, Le Bouar G, Quélin C, Dubourg C, Pasquier L, Odent S, Belaud-Rotureau MA, Jaillard S
Eur J Med Genet 2022 Feb;65(2):104422. Epub 2022 Jan 10 doi: 10.1016/j.ejmg.2022.104422. PMID: 35026468
Grande M, Jansen FA, Blumenfeld YJ, Fisher A, Odibo AO, Haak MC, Borrell A
Ultrasound Obstet Gynecol 2015 Dec;46(6):650-8. doi: 10.1002/uog.14880. PMID: 25900824

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