Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome

Cancrini, Caterina; Puliafito, Pamela; Digilio, María Cristina; Soresina, Annarosa; Martino, Silvana; Rondelli, Roberto; Consolini, Rita; Ruga, Ezia; Cardinale, Fabio; Finocchi, Andrea; Romiti, Maria Luisa; Martire, Baldassarre; Bacchetta, Rosa; Albano, V.; Carotti, Adriano; Specchia, Fernando; Montin, Davide; Cirillo, Emilia; Cocchi, Guido; Trizzino, Antonino; Bossi, Grazia; Milanesi, Ornella; Azzari, Chiara; Corsello, Giovanni; Pignata, Claudio; Aiuti, Alessandro; Pietrogrande, Maria Cristina; Marino, Bruno; Ugazio, Alberto G.; Plebani, Alessandro; Rossi, Paolo

doi:10.1016/j.jpeds.2014.01.056

Cited by 126 publications

(160 citation statements)

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“…4,5 According to the literature, the 22q11.2 deletion occurs de novo in 90% of cases and therefore is inherited in the remaining 10%. 3,[5][6][7][8] In our prenatal series of 272 fetuses with 22q11.2DS, 27% of the deletions were inherited. 9 Of the inherited deletions, 72 to 77% are of maternal origin.…”

Section: Introductionmentioning

confidence: 75%

“…Even though the CHD was generally a conotruncal disorder (including tetralogy of Fallot, interrupted aortic arch, etc), the most common CHD in our postnatally diagnosed patients was an isolated septal defect. The literature data on cases of 22q11.2DS (most of which are diagnosed postnatally) suggest that the frequency of a CHD is between 31.1 and 80.0%, 1,3,5,7,8,32,33 with tetralogy of Fallot and a ventricular septal defect being the most frequent. 3,7,8,33,34 Of the 15 patients diagnosed using aCGH, 3 had a CHD (including 2 with a deletion encompassing the TBX1 gene that is strongly suspected to be involved in CHDs 18 ) and the third patient (patient 15) had a distal deletion encompassing CRKL (also suspected to be involved in Postnatal diagnosis of 22q11 deletions C Poirsier et al CHDs 23 ) (Figure 3).…”

Section: Discussionmentioning

confidence: 99%

“…1,2 The phenotype is highly variableover 180 associated clinical manifestations already described -and ranges from severe, with life-threatening malformations, to nearly asymptomatic cases. The major clinical features include congenital heart defects (CHDs), palate defects (velopharyngeal insufficiency, cleft palate, etc), mild-to-moderate immunodeficiency (because of thymic aplasia or hypoplasia), hypocalcemia caused by hypoparathyroidism, a distinct gestalt, developmental delay (DD), learning 1 Département de Génétique, CHU de Reims, Reims, France; 2 Service de Cytogénétique, Hôpital Poissy/Saint-Germain-en-Laye, Poissy, France; 3 Service de Cytogénétique, CHU de Lyon, Lyon, France; 4 CHU Bordeaux, Génétique Médicale, Bordeaux, France; 5 Laboratoire de Cytogénétique, CHU de Marseille, Marseille, France; 6 CHU Nantes, Service de Génétique Médicale, Inserm UMR957, Faculté de Médecine, Nantes, France; 7 Laboratoire de Cytogénétique Pasteur-Cerba, Saint-Ouen l'Aumône, France; 8 Service de Cytogénétique, CHU de Necker, Université Paris Descartes, Sorbonne Paris Cité, Paris, France; 9 Service de Cytogénétique, CHU de Besançon, Besançon, France; 10 Service de Cytogénétique, Biolille, Lille, France; 11 Service de Cytogénétique, Hôpital Saint Vincent de Paul, Paris, France; 12 Laboratoire de Cytogénétique Postnatal, CHU Clemenceau, Caen, France; 13 Service de Cytogénétique et Biologie de la Reproduction, CHRU de Brest, Brest, France; 14 Service de Cytogénétique, CHU de Robert Debré, Paris, France; 15 Service de Cytogénétique, CHU de Strasbourg, Strasbourg, France; 16 Service de Cytogénétique, CHU de Tours, Tours, France; 17 Service de Cytogénétique, CHU de Nancy, Nancy, France; 18 Laboratoire de Cytogénétique Cylab, La Rochelle, France; 19 Service de Cytogénétique, Hôpital de Saint-Denis, Saint-Denis de la Réunion, France; disabilities, intellectual disability (ID) and behavioral disturbances. [3][4][5] Renal, ocular and skeletal anomalies have also been observed.…”

Section: Introductionunclassified

“…9 Of the inherited deletions, 72 to 77% are of maternal origin. 3,8,10 The 22q11.2 region contains eight low copy repeats (LCRs, referred to as LCR22-A to LCR22-H). The deletion results from nonallelic LCR-mediated, homologous recombination during meiosis.…”

Section: Introductionmentioning

confidence: 99%

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A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Poirsier¹,

Besseau-Ayasse²,

Schluth-Bolard³

et al. 2015

Eur J Hum Genet

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Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multicenter, retrospective analysis of postnatally diagnosed patients recruited by members of the Association des Cytogénéticiens de Langue Française (the French-Speaking Cytogeneticists Association). Clinical and cytogenetic data on 749 cases diagnosed between 1995 and 2013 were collected by 31 French cytogenetics laboratories. The most frequent reasons for referral of postnatally diagnosed cases were a congenital heart defect (CHD, 48.6%), facial dysmorphism (49.7%) and developmental delay (40.7%). Since 2007 (the year in which array comparative genomic hybridization (aCGH) was introduced for the routine screening of patients with intellectual disability), almost all cases have been diagnosed using FISH (96.1%). Only 15 cases (all with an atypical phenotype) were diagnosed with aCGH; the deletion size ranged from 745 to 2904 kb. The deletion was inherited in 15.0% of cases and was of maternal origin in 85.5% of the latter. This is the largest yet documented cohort of patients with 22q11.2DS (the most commonly diagnosed microdeletion) from the same population. French cytogenetics laboratories diagnosed at least 108 affected patients (including fetuses) per year from among a national population of ∼ 66 million. As observed for prenatal diagnoses, CHDs were the most frequently detected malformation in postnatal diagnoses. The most common CHD in postnatal diagnoses was an isolated septal defect.

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Section: Introductionmentioning

confidence: 75%

Section: Discussionmentioning

confidence: 99%

Section: Introductionunclassified

Section: Introductionmentioning

confidence: 99%

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A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Poirsier¹,

Besseau-Ayasse²,

Schluth-Bolard³

et al. 2015

Eur J Hum Genet

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“…A avaliação molecular de polimorfismos de microssatélite também é um possível método para o diagnóstico dessa síndrome, com várias consequências práticas (ROSA et al, 2009;CANCRINI et al, 2014).…”

Section: Genômica Comparativa (Comparative Genomic Hybridization Cghunclassified

Caracterização fenotípica em indivíduos com microarranjos na região cromossômica 22q11

Empke¹

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RESUMOEmpke SLL. Caracterização fenotípica em indivíduos com microarranjos na região cromossômica 22q11 [dissertação]. Bauru: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo; 2015.Objetivo: Descrever as manifestações clínicas de indivíduos com hipótese diagnostica da Sindrome de deleção 22q11 (SD22q11) confirmados por testes genéticos, na primeira avaliação e durante o acompanhamento dos mesmos em avaliações subsequentes para uma melhor definição do curso natural da doença. Local: Laboratório de Genética e Citogenética Humana do HRAC-USP -Bauru/SP. Casuística e metodologia: O presente trabalho é retrospectivo e analisou os dados de prontuários de 72 indivíduos cadastrados no HRAC-USP, os quais receberam hipótese diagnóstica da SD22q11 e foram confirmadas por teste genético (MLPA ou FISH). A avaliação envolveu a analise dos dados relatados por todos os setores do HRAC-USP. Resultados e discussão: Foramanalisados 72prontuários deindivíduos com a SD22q11. Constatamos que a idade media dos indivíduos quando do cadastro no HRAC-USP foi de seis anos. Também constatamos que houve um longo período de tempo entre os retornos ao hospital e que, nesses retornos, nem todas as especialidades foram contempladas. Esses fatos prejudicaram a analise da historia natural da anomalia em questão. Com relação às características fenotipicas, observamos a presença de sinais clínicos típicos, como por exemplo: face alongada, lábios finos, hipoplasia alar, anormalidades menores na orelha, dígitos longos e fendas palpebrais, fissuras labiopalatinas, cardiopatias congenitas, dificuldade de aprendizagem, atraso de linguagem e distúrbios comportamentais. A fissura oral foi à manifestação otorrinolaringológica mais frequente, presente em 75% dos pacientes, onde as fissuras submucosas foram as mais frequentes (43%). As características cognitivas como, atraso de fala (87%), dificuldades de aprendizagem (95%) e distúrbios comportamentais (81%), tiveram um resultado significativo, descritas em quase todos os indivíduos. As cardiopatias congênitas estavam presentes em 47,2% dos prontuários analisados. De um modo geral, comparando a frequência dos sinais clínicos encontrados neste trabalho com dados da literatura, constatamos que as frequências encontram-se dentro do esperado. Conclusão: A maioria dos indivíduos cadastrados no HRAC-USP, pertencentes ao grupo de estudo, apresentou idade superior a 06 anos. Portanto, a observação do curso natural da historia da SD22q11 para avaliar características fenotípicas que surgissem ao longo da evolução clinica do indivíduo e que pudessem ajudar no diagnóstico, ficou prejudicada. Mesmo nos casos onde o indivíduo foi cadastrado no HRAC-USP com idade inferior a dois anos, o diagnóstico foi tardio devido a falta de uma ação multidisciplinar e interdisciplinar no hospital. Mesmo não sendo possível avaliar as características fenotípicas surgidas durante a historia natural da doença, constatamos que as manifestações clínicas relatadas nos prontuários cursam com as características da SD...

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A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

et al. 2016

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Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome

Cited by 126 publications

References 35 publications

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Caracterização fenotípica em indivíduos com microarranjos na região cromossômica 22q11

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

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