The 11q;22q translocation: A European collaborative analysis of 43 cases

Fraccaro, M.; Lindsten, J.; Ford, C. E.; Iselius, Lennart; Antonelli, Andrea; Aula, Pertti; Aurias, Alain; Bain, A. D.; Bartsch-Sandhoff, M.; Bernardi, Franck; Boyd, E.; Buchanan, Luke; Cameron, A. H.; Chapelle, Albert de la; Ciuffa, G.; Cuoco, Cristina; Dutrillaux, Bernard; Dutton, Gareth R.; Ferguson‐Smith, Malcolm A.; Francesconi, D.; Geraedts, J. P. M.; Gimelli, G.; Gueguen, Jules; Gärsner, E.; Hagemeijer, Anne; Hansen, Flemming Juul; Hollings, Peter E.; Hustinx, T. W. J.; Kaakinen, Aulikki; Kamp, J. J. P. Van De; Koskull, Harriet von; Lejeune, J; Lindenbaum, R H; McCreanor, H. H.; Mikkelsen, Margareta; Mitelman, Felix; Nicoletti, B.; Nilsby, J.; Nilsson, Birgit; Noël, Bernard; Padovani, E.; Pasquali, Francesco; Pater, Joke de; Pedersen, Carsten; Petersen, Frank; Robson, Elizabeth B.; Rotman, J; Ryynänen, Markku; Sachs, E. S.; Salat, J; Smythe, R H; Stabell, I.; Šubrt, I; Vampirelli, P.; Wessner, G.; Zergollern, L; Zuffardi, Orsetta

doi:10.1007/bf00281567

Cited by 187 publications

(130 citation statements)

References 15 publications

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“…Achados craniofaciais são usualmente caracterizados por olhos profundos, hipotelorismo ocular, nariz achatado, lábio superior proeminente, fenda palatina e anomalias de orelha que incluem fossetas e apêndices pré-auriculares. Importante atraso de desenvolvimento neuropsicomotor e de fala, movimentos estereotipados com as mãos, hipotonia, defeitos cardíacos, anomalias genitais masculinas e anormalidades renais são também achados frequentes (5)(6)(7)(8)(9) .…”

Section: Discussionunclassified

“…Apesar de o nosso primeiro paciente mostrasse vários achados similares aos da maioria dos casos da síndrome de (6) , Fraccaro et al (5) , Schinzel et al (7) , Balci et al (11) , Toyoshima et al (4) e Carter et al (9) ; † Baseado em Tasse et al (15) , Ström-land et al (14) e Engiz et al (16) .…”

Section: Discussionunclassified

“…Seu risco para gerar um recém-nascido com o der(22) supernumerário varia de 1,8 a 5,6% e, para abortamento espontâneo, de 23 a 37%. Indivíduos com a síndrome de Emanuel são considerados improváveis de se reproduzir devido à sua importante deficiência cognitiva (3,5,6,17) .…”

Section: Referências Bibliográficasunclassified

“…Atualmente, sabe-se que as regiões 11q23 e 22q11 apresentam repetições palindrômicas ricas em repetições AT (palindromic AT-rich repeats -PATTRs) que predispõem à formação dessa translocação (2)(3)(4) . A síndrome é clinicamente caracterizada por importante deficiência cognitiva, anomalias craniofaciais, malformações cardíacas e anormalidades renais (5)(6)(7)(8)(9) . Entretanto, considerável variabilidade no fenótipo tem sido observada na literatura (2,7,9) .…”

Section: Introductionunclassified

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Variabilidade fenotípica na síndrome do cromossomo supernumerário der(22)t(11;22) (síndrome de Emanuel)

Rosa¹,

Pfeil

Zen³

et al. 2010

Rev. paul. pediatr.

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RESUMOObjetivo: Relatar dois pacientes com a síndrome de Emanuel (SE) ou cromossomo supernumerário der(22) t(11;22), secundária a translocações balanceadas familiares, apresentando fenótipos distintos.Descrição dos casos: O primeiro paciente é uma menina branca de cinco anos de idade, apresentando hipotonia, atraso no desenvolvimento neuropsicomotor, movimentos estereotipados, microcefalia, ptose palpebral, orelhas proeminentes, fossetas e apêndices pré-auriculares, e imperfuração anal. As avaliações adicionais identificaram hipoplasia cerebral e estenose da válvula pulmonar. Possuía história também de laringotraqueomalácia e fenda palatina. O segundo paciente é um menino branco de seis meses de idade com hipotonia, movimentos coreoatetóticos, déficit de crescimento, microcefalia, microssomia hemifacial, fenda palatina, microtia, apêndices pré-auriculares e polegares proximalmente implantados. A ecocardiografia demonstrou estenose da válvula pulmonar, comunicação interatrial e interventricular, persistência do canal arterial e da veia cava superior esquerda. A radiografia de tórax identificou uma costela cervical. O cariótipo por bandas GTG mostrou a presença, em ambos os pacientes, de um cromossomo adicional der(22)t(11;22), secundário a uma translocação balanceada materna no primeiro caso e paterna no segundo caso.Comentários: Apesar de a primeira paciente apresentar achados frequentes da SE, o caso adicional representa a segunda descrição da literatura com um fenótipo de espectro óculo-aurículo-vertebral (EOAV). Assim, ambos salientam a variabilidade clínica observada na SE e a importância da avaliação cariotípica em indivíduos com fenótipo de EOAV.Palavras-chave: translocação genética; aberrações cromossômicas; fenótipo; síndrome de Goldenhar; aconselhamento genético. ABSTRACT Objective:To report two patients with Emanuel syndrome (ES) or supernumerary chromosome der(22)t(11;22), secondary to familial balanced translocations, presenting distinct phenotypes.Cases description: The first patient was a five-year-old white girl presenting hypotonia, neuropsychomotor delay, stereotypic movements, microcephaly, ptosis, prominent ears, preauricular pits with skin tag, and imperforate anus. Additional evaluations identified cerebral hypoplasia and pulmonar valvar stenosis. She also had laryngotracheomalacia and cleft palate. The second patient was a six months white boy with hypotonia, choreoatetotic movements, growth retardation, microcephaly, hemifacial microsomia,

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Section: Discussionunclassified

Section: Referências Bibliográficasunclassified

Section: Introductionunclassified

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Variabilidade fenotípica na síndrome do cromossomo supernumerário der(22)t(11;22) (síndrome de Emanuel)

Rosa¹,

Pfeil

Zen³

et al. 2010

Rev. paul. pediatr.

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“…No specific diagnostic test and no specific DNA probe for the CECR can be commercially purchased, and cosmid clones such as cos121, 4,5 H9;72, H7;48, and E0 6 are neither generally available nor is their molecular content defined by current standards. Moreover, a number of different SMCs containing the CECR have been described, including the typical bisatellited small (type I) and larger (type II) cat eye syndrome (CES) chromosomes, 5 -9 small ring-like SMCs (22), 2 and others, 10,11 warranting FISH studies with several DNA probes.…”

Section: Introductionmentioning

confidence: 99%

FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22)

Bartsch

Rasi²,

Hoffmann

et al. 2005

Eur J Hum Genet

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Supernumerary marker chromosomes (SMCs) are frequently found at pre-and postnatal cytogenetic diagnosis and require identification. A disproportionally large subset of SMCs is derived from the human chromosome 22 and confers tri-or tetrasomy for the cat eye chromosomal region (CECR, the proximal 2 Mb of chromosome 22q) and/or other segments of 22q. Using fluorescence in situ hybridization (FISH) and 15 different DNA probes, we studied nine unrelated patients with an SMC(22) that contained the CECR. Five patients showed the small (type I) cat eye syndrome (CES) chromosome and each one had the larger (type II) CES chromosome, small ring chromosome 22, der(22)t(11;22) extrachromosome, and a novel type of bisatellited SMC (22) with breakpoints outside the low-copy repeats (LCRs22). By size and morphology, the novel bisatellited SMC(22) resembled the typical (types I and II) CES chromosomes, but it might have been associated with the chromosome 22q duplication syndrome, not CES. This SMC included a marker from band 22q12.3 and conferred only one extra copy each of the 22 centromere, CECR, and common 22q11 deletion area. There has been no previous report of a bisatellited SMC(22) predicting the chromosome 22q duplication syndrome. Accounting for the cytogenetic resemblance to CES chromosomes but different makeup and prognosis, we propose naming this an atypical (type III) CES chromosome. In this study, we found six distinct intervals on 22q to be relevant for FISH diagnostics. We propose to characterize SMCs(22) using DNA probes corresponding to these intervals.

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Mosaic trisomy 22: A case presentation and literature review of trisomy 22 phenotypes

et al. 1997

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In a case of mosaic trisomy 22 the trisomic cells were detected primarily in fibroblasts. Results of initial lymphocyte chromosome analysis were normal. However, mosaicism was suspected because the patient had hypomelanosis of Ito, hemiatrophy, failure to thrive, and mental retardation. Mosaicism was confirmed in cultured fibroblasts. Repeat cytogenetic analysis of peripheral blood demonstrated a low level of trisomic metaphase cells, which was confirmed by interphase fluorescent in situ hybridization (FISH) analysis. Molecular studies supported maternal disomy in the child's disomic cells. The phenotype of this condition overlaps that of non-mosaic trisomy 22 chromosome mosaicism in general and to some extent the Ullrich-Turner syndrome phenotype. Improved cytogenetic and molecular techniques now allow better delineation of aneuploidy syndromes. Molecular and FISH studies added information about this case (mosaicism and uniparental disomy) not appreciated by routine cytogenetic analysis of lymphocytes. The detection of low-level mosaicism and/or uniparental disomy in such cases may change the clinical classification and our understanding of pathogenesis and recurrence risk of these disorders.

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The 11q;22q translocation: A European collaborative analysis of 43 cases

Cited by 187 publications

References 15 publications

Variabilidade fenotípica na síndrome do cromossomo supernumerário der(22)t(11;22) (síndrome de Emanuel)

Variabilidade fenotípica na síndrome do cromossomo supernumerário der(22)t(11;22) (síndrome de Emanuel)

FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited SMC(22)

Mosaic trisomy 22: A case presentation and literature review of trisomy 22 phenotypes

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