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Page 1
22q11.2 deletion syndrome.
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. McDonald-McGinn DM, et al. Nat Rev Dis Primers. 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. Nat Rev Dis Primers. 2015. PMID: 27189754 Free PMC article. Review.
The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism …
The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made i …
Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.
Sullivan KE. Sullivan KE. Immunol Rev. 2019 Jan;287(1):186-201. doi: 10.1111/imr.12701. Immunol Rev. 2019. PMID: 30565249 Review.
Chromosome 22q11.2 deletion syndrome is the most common microdeletion syndrome in humans. The effects are protean and highly variable, making a unified approach difficult. ...
Chromosome 22q11.2 deletion syndrome is the most common microdeletion syndrome in humans. The effects are protean and highly v …
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
McDonald-McGinn DM, Sullivan KE. McDonald-McGinn DM, et al. Medicine (Baltimore). 2011 Jan;90(1):1-18. doi: 10.1097/MD.0b013e3182060469. Medicine (Baltimore). 2011. PMID: 21200182 Free article. Review.
Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1:4000 births, and the incidence is increasing due to affected parents bearing their own affected …
Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial …
Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.
Biggs SE, Gilchrist B, May KR. Biggs SE, et al. Curr Allergy Asthma Rep. 2023 Apr;23(4):213-222. doi: 10.1007/s11882-023-01071-4. Epub 2023 Mar 10. Curr Allergy Asthma Rep. 2023. PMID: 36897497 Free PMC article. Review.
PURPOSE OF REVIEW: This review focuses on immunologic findings, relationships among immunologic findings and associated conditions of autoimmunity and atopy, and management of immunologic disease in chromosome 22q11.2 deletion syndrome (22q11.2DS, historically known as …
PURPOSE OF REVIEW: This review focuses on immunologic findings, relationships among immunologic findings and associated conditions of autoim …
Clinical Manifestations of 22q11.2 Deletion Syndrome.
Cirillo A, Lioncino M, Maratea A, Passariello A, Fusco A, Fratta F, Monda E, Caiazza M, Signore G, Esposito A, Baban A, Versacci P, Putotto C, Marino B, Pignata C, Cirillo E, Giardino G, Sarubbi B, Limongelli G, Russo MG. Cirillo A, et al. Heart Fail Clin. 2022 Jan;18(1):155-164. doi: 10.1016/j.hfc.2021.07.009. Epub 2021 Oct 25. Heart Fail Clin. 2022. PMID: 34776076 Review.
DiGeorge syndrome (DGS), also known as "22q11.2 deletion syndrome" (22q11DS) (MIM # 192430 # 188400), is a genetic disorder caused by hemizygous microdeletion of the long arm of chromosome 22. ...
DiGeorge syndrome (DGS), also known as "22q11.2 deletion syndrome" (22q11DS) (MIM # 192430 # 188400), is a genetic diso …
Hyper IgE syndromes: clinical and molecular characteristics.
Al-Shaikhly T, Ochs HD. Al-Shaikhly T, et al. Immunol Cell Biol. 2019 Apr;97(4):368-379. doi: 10.1111/imcb.12209. Epub 2018 Nov 19. Immunol Cell Biol. 2019. PMID: 30264496 Review.
Hyper IgE syndromes comprise a group of rare primary immunodeficiency disorders characterized by a triad of atopic dermatitis, recurrent skin and lung infections along with elevated IgE levels. Job syndrome or autosomal dominant hyper IgE syndrome because of heteroz …
Hyper IgE syndromes comprise a group of rare primary immunodeficiency disorders characterized by a triad of atopic dermatitis, recurrent ski …
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM. Óskarsdóttir S, et al. Genet Med. 2023 Mar;25(3):100338. doi: 10.1016/j.gim.2022.11.006. Epub 2023 Feb 2. Genet Med. 2023. PMID: 36729053 Free article. Review.
This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, rec …
This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22 …
22q11.2 deletion syndrome and congenital heart disease.
Goldmuntz E. Goldmuntz E. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):64-72. doi: 10.1002/ajmg.c.31774. Epub 2020 Feb 12. Am J Med Genet C Semin Med Genet. 2020. PMID: 32049433 Review.
The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. The phenotype varies widely; the most common features include: facial dysmorphia, hypocalcemia, palate and speech disorders, feeding and gastrointestinal disorders, immunodeficiency, recu …
The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. The phenotype varies widely; the most common fe …
Molecular genetics of 22q11.2 deletion syndrome.
Morrow BE, McDonald-McGinn DM, Emanuel BS, Vermeesch JR, Scambler PJ. Morrow BE, et al. Am J Med Genet A. 2018 Oct;176(10):2070-2081. doi: 10.1002/ajmg.a.40504. Am J Med Genet A. 2018. PMID: 30380194 Free PMC article. Review.
The 22q11.2 deletion syndrome (22q11.2DS) is a congenital malformation and neuropsychiatric disorder caused by meiotic chromosome rearrangements. ...
The 22q11.2 deletion syndrome (22q11.2DS) is a congenital malformation and neuropsychiatric disorder caused by meiotic chromosome rea …
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features.
Burnside RD. Burnside RD. Cytogenet Genome Res. 2015;146(2):89-99. doi: 10.1159/000438708. Epub 2015 Aug 8. Cytogenet Genome Res. 2015. PMID: 26278718 Free article. Review.
Chromosome 22q11.21 contains a cluster of low-copy repeats (LCRs), referred to as LCR22A-H, that mediate meiotic non-allelic homologous recombination, resulting in either deletion or duplication of various intervals in the region. The deletion of the DiGeorge/velocardiofac …
Chromosome 22q11.21 contains a cluster of low-copy repeats (LCRs), referred to as LCR22A-H, that mediate meiotic non-allelic homologous reco …
477 results