Practical guidelines for managing patients with 22q11.2 deletion syndrome

doi:10.1016/j.jpeds.2011.02.039

Case Reports

. 2011 Aug;159(2):332-9.e1.

doi: 10.1016/j.jpeds.2011.02.039. Epub 2011 May 12.

Practical guidelines for managing patients with 22q11.2 deletion syndrome

Anne S Bassett¹, Donna M McDonald-McGinn, Koen Devriendt, Maria Cristina Digilio, Paula Goldenberg, Alex Habel, Bruno Marino, Solveig Oskarsdottir, Nicole Philip, Kathleen Sullivan, Ann Swillen, Jacob Vorstman; International 22q11.2 Deletion Syndrome Consortium

Collaborators, Affiliations

Collaborators

International 22q11.2 Deletion Syndrome Consortium:
Véronique Abadie, Jeremy Allgrove, Francesca Amati, Kate Baker, Adriane Baylis, Marie-Paule Beaujard, Frits Beemer, Maria Boers, Patrick Bolton, Erik Boot, Sophie Brigstocke, Stephane Burtey, Linda Campbell, Melanie Chabloz, Eva Chow, Jill Clayton-Smith, Joseph Cubells, Martin Debbané, Marie-Ange Delrue, Bert De Smedt, Sasja Duijff, Peggy Eicher, Beverly Emanuel, Laurens Evers, Astrid Flahault, Alex Forsythe, Thierry Frebourg, Andy Gennery, Elizabeth Goldmuntz, Anne Gosling, Steven Handler, Damian Heine-Suñer, Aaron Hilmarsson, Annique Hogan, Roel Hordijk, Sarah Howley, Elizabeth Illingworth, Oksana Jackson, Hillary Joyce, Hiroshi Kawame, Robert Kelly, Alexandra Kemp, Lucas Kempf, J L L Kimpen, Richard Kirschner, Petra Klaassen, Dinakantha Kumararatne, Michelle Lambert, Kari Lima, Elizabeth Lindsay, Silvia Macerola, Merav Burg Malki, Sandrine Marlin, Maria Mascarenhas, Stephen Monks, Veronica Moran, Bernice Morrow, Ed Moss, Clodagh Murphy, Nitha Naqvi, Bent Windelborg Nielsen, Lena Niklasson, Hilde Nordgarden, C E Oenema-Mostert, Marie-Christine Ottet, Catherine Pasca, Patrick Pasquariello, Christina Persson, Marie-France Portnoi, Sarah Prasad, Kimberly Rockers, Sulagna Saitta, Peter Scambler, Marie Schaer, Maude Schneider, Debbie Sell, Cindy Solot, Brian Sommerlad, Nancy Unanue, Frederick Sundram, Katrijn Van Aken, Therese van Amelsvoort, Aebele Mink van der Molen, Josine Widdershoven, Elaine H Zackai

Affiliation

¹ Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

PMID: 21570089
PMCID: PMC3197829
DOI: 10.1016/j.jpeds.2011.02.039

Case Reports

Practical guidelines for managing patients with 22q11.2 deletion syndrome

Anne S Bassett et al. J Pediatr. 2011 Aug.

. 2011 Aug;159(2):332-9.e1.

doi: 10.1016/j.jpeds.2011.02.039. Epub 2011 May 12.

Authors

Collaborators

International 22q11.2 Deletion Syndrome Consortium:
Véronique Abadie, Jeremy Allgrove, Francesca Amati, Kate Baker, Adriane Baylis, Marie-Paule Beaujard, Frits Beemer, Maria Boers, Patrick Bolton, Erik Boot, Sophie Brigstocke, Stephane Burtey, Linda Campbell, Melanie Chabloz, Eva Chow, Jill Clayton-Smith, Joseph Cubells, Martin Debbané, Marie-Ange Delrue, Bert De Smedt, Sasja Duijff, Peggy Eicher, Beverly Emanuel, Laurens Evers, Astrid Flahault, Alex Forsythe, Thierry Frebourg, Andy Gennery, Elizabeth Goldmuntz, Anne Gosling, Steven Handler, Damian Heine-Suñer, Aaron Hilmarsson, Annique Hogan, Roel Hordijk, Sarah Howley, Elizabeth Illingworth, Oksana Jackson, Hillary Joyce, Hiroshi Kawame, Robert Kelly, Alexandra Kemp, Lucas Kempf, J L L Kimpen, Richard Kirschner, Petra Klaassen, Dinakantha Kumararatne, Michelle Lambert, Kari Lima, Elizabeth Lindsay, Silvia Macerola, Merav Burg Malki, Sandrine Marlin, Maria Mascarenhas, Stephen Monks, Veronica Moran, Bernice Morrow, Ed Moss, Clodagh Murphy, Nitha Naqvi, Bent Windelborg Nielsen, Lena Niklasson, Hilde Nordgarden, C E Oenema-Mostert, Marie-Christine Ottet, Catherine Pasca, Patrick Pasquariello, Christina Persson, Marie-France Portnoi, Sarah Prasad, Kimberly Rockers, Sulagna Saitta, Peter Scambler, Marie Schaer, Maude Schneider, Debbie Sell, Cindy Solot, Brian Sommerlad, Nancy Unanue, Frederick Sundram, Katrijn Van Aken, Therese van Amelsvoort, Aebele Mink van der Molen, Josine Widdershoven, Elaine H Zackai

Affiliation

¹ Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.

PMID: 21570089
PMCID: PMC3197829
DOI: 10.1016/j.jpeds.2011.02.039

No abstract available

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

**Figure**
Mild dysmorphic facial features of a boy aged 11 years with 22q11.2DS, including a short forehead, hooded eyelids with upslanting palpebral fissures, malar flatness, bulbous nasal tip with hypoplastic alae nasi, and protuberant ears.

See this image and copyright information in PMC

Cited by

Clinical Features to Predict 22q11.2 Deletion Syndrome Proven by Molecular Genetic Testing.
Rojnueangit K, Khetkham T, Onsod P, Chareonsirisuthigul T. Rojnueangit K, et al. J Pediatr Genet. 2020 Oct 1;11(1):22-27. doi: 10.1055/s-0040-1718386. eCollection 2022 Mar. J Pediatr Genet. 2020. PMID: 35186386 Free PMC article.
22q11.2 Deletion Syndrome-Associated Parkinson's Disease.
Boot E, Bassett AS, Marras C. Boot E, et al. Mov Disord Clin Pract. 2018 Nov 9;6(1):11-16. doi: 10.1002/mdc3.12687. eCollection 2019 Jan. Mov Disord Clin Pract. 2018. PMID: 30746410 Free PMC article. Review.
A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.
Poirsier C, Besseau-Ayasse J, Schluth-Bolard C, Toutain J, Missirian C, Le Caignec C, Bazin A, de Blois MC, Kuentz P, Catty M, Choiset A, Plessis G, Basinko A, Letard P, Flori E, Jimenez M, Valduga M, Landais E, Lallaoui H, Cartault F, Lespinasse J, Martin-Coignard D, Callier P, Pebrel-Richard C, Portnoi MF, Busa T, Receveur A, Amblard F, Yardin C, Harbuz R, Prieur F, Le Meur N, Pipiras E, Kleinfinger P, Vialard F, Doco-Fenzy M. Poirsier C, et al. Eur J Hum Genet. 2016 Jun;24(6):844-51. doi: 10.1038/ejhg.2015.219. Epub 2015 Oct 28. Eur J Hum Genet. 2016. PMID: 26508576 Free PMC article.
Hashimoto's Thyroiditis and Graves' Disease in Genetic Syndromes in Pediatric Age.
Casto C, Pepe G, Li Pomi A, Corica D, Aversa T, Wasniewska M. Casto C, et al. Genes (Basel). 2021 Feb 4;12(2):222. doi: 10.3390/genes12020222. Genes (Basel). 2021. PMID: 33557156 Free PMC article. Review.
Relationship between high trait anxiety in 22q11.2 deletion syndrome and the difficulties in medical, welfare, and educational services.
Nakajima N, Tanaka M, Kanehara A, Morishima R, Kumakura Y, Ohkouchi N, Hamada J, Ogawa T, Tamune H, Nakahara M, Mori S, Ichihashi K, Jinde S, Kano Y, Sakamoto I, Tanaka K, Hirata Y, Ohashi H, Shinohara T, Kasai K. Nakajima N, et al. PCN Rep. 2023 Feb 13;2(1):e80. doi: 10.1002/pcn5.80. eCollection 2023 Mar. PCN Rep. 2023. PMID: 38868412 Free PMC article.

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References

1. Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child. 1998;79:348–51. - PMC - PubMed
1. Tezenas Du Montcel ST, Mendizabal H, Ayme S, Levy A, Philip N. Prevalence of 22q11 microdeletion. J Med Genet. 1996;33:719. - PMC - PubMed
1. Oskarsdottir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child. 2004;89:148–51. - PMC - PubMed
1. McDonald-McGinn DM, Zackai EH. Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev. 2008;14:69–74. - PubMed
1. Cocchi G, Gualdi S, Bower C, Halliday J, Jonsson B, Myrelid A, et al. International trends of Down syndrome 1993–2004: births in relation to maternal age and terminations of pregnancies. Birth Defects Res A Clin Mol Teratol. 2010;88:474–9. - PubMed

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[1] Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child. 1998;79:348–51. - PMC - PubMed

[2] Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child. 1998;79:348–51. - PMC - PubMed

[3] Tezenas Du Montcel ST, Mendizabal H, Ayme S, Levy A, Philip N. Prevalence of 22q11 microdeletion. J Med Genet. 1996;33:719. - PMC - PubMed

[4] Tezenas Du Montcel ST, Mendizabal H, Ayme S, Levy A, Philip N. Prevalence of 22q11 microdeletion. J Med Genet. 1996;33:719. - PMC - PubMed

[5] Oskarsdottir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child. 2004;89:148–51. - PMC - PubMed

[6] Oskarsdottir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child. 2004;89:148–51. - PMC - PubMed

[7] McDonald-McGinn DM, Zackai EH. Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev. 2008;14:69–74. - PubMed

[8] McDonald-McGinn DM, Zackai EH. Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev. 2008;14:69–74. - PubMed

[9] Cocchi G, Gualdi S, Bower C, Halliday J, Jonsson B, Myrelid A, et al. International trends of Down syndrome 1993–2004: births in relation to maternal age and terminations of pregnancies. Birth Defects Res A Clin Mol Teratol. 2010;88:474–9. - PubMed

[10] Cocchi G, Gualdi S, Bower C, Halliday J, Jonsson B, Myrelid A, et al. International trends of Down syndrome 1993–2004: births in relation to maternal age and terminations of pregnancies. Birth Defects Res A Clin Mol Teratol. 2010;88:474–9. - PubMed

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Practical guidelines for managing patients with 22q11.2 deletion syndrome

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Practical guidelines for managing patients with 22q11.2 deletion syndrome

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