The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families

Iselius, Lennart; Lindsten, J.; Aurias, Alain; Fraccaro, M.; Bastard, Christian; Bottelli, A M; Bui, The‐Hung; Caufin, Daniele; Dalprà, Leda; Delendi, N.

doi:10.1007/bf00292366

Cited by 112 publications

(70 citation statements)

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“…A small subset of patients have a nested deletion of 1.5 Mb (5). Other constitutional rearrangements such as tetrasomy and trisomy of HSA22q11 have been described in two other developmental disorders, ''cat eye'' syndrome (MIM 115470) and derivative 22 syndrome (6). The extra copies of the 22q11 region present in such individuals include the 1.5-Mb region that is deleted in some VCFS͞DGS patients, suggesting the presence of genes in this interval causing dosage-sensitive effects on cardiac development and other aspects of fetal development (7).…”

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confidence: 99%

Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/ DiGeorge syndrome region

Puech

Saint-Jore

Merscher

et al. 2000

Proc. Natl. Acad. Sci. U.S.A.

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Hemizygous interstitial deletions in human chromosome 22q11 are associated with velocardiofacial syndrome and DiGeorge syndrome and lead to multiple congenital abnormalities, including cardiovascular defects. The gene(s) responsible for these disorders is thought to reside in a 1.5-Mb region of 22q11 in which 27 genes have been identified. We have used Cre-mediated recombination of LoxP sites in embryonic stem cells and mice to generate a 550-kb deletion encompassing 16 of these genes in the corresponding region on mouse chromosome 16. Mice heterozygous for this deletion are normal and do not exhibit cardiovascular abnormalities. Because mice with a larger deletion on mouse chromosome 16 do have heart defects, the results allow us to exclude these 16 genes as being solely, or in combination among themselves, responsible for the cardiovascular abnormalities in velocardiofacial͞DiGeorge syndrome. We also generated mice with a duplication of the 16 genes that may help dissect the genetic basis of ''cat eye'' and derivative 22 syndromes that are characterized by extra copies of portions of 22q11, including these 16 genes. We also describe a strategy for selecting cell lines with defined chromosomal rearrangements. The method is based on reconstitution of a dominant selection marker after Cre-mediated recombination of LoxP sites. Therefore it should be widely applicable to many cell lines.

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confidence: 99%

Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/ DiGeorge syndrome region

Puech

Saint-Jore

Merscher

et al. 2000

Proc. Natl. Acad. Sci. U.S.A.

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“…This may be expected as reciprocal translocations, although common, remain unique in the population, with most inherited by descent and so remain within families. 10 For the one exception to this generality, that of the t(11;22) translocation that is recurrent among different ancestries, 48 and so could arise through a non-consanguinous relationship, no cases of homozygosity were identified.…”

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confidence: 99%

Homozygosity for constitutional chromosomal rearrangements: a systematic review with reference to origin, ascertainment and phenotype

O’Neill¹

2010

J Hum Genet

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Chromosomal translocations and inversions are present in B0.6-1% of individuals. Although the majority are inherited, and the familial transmission across generations is well reported, reports of homozygosity are relatively rare, with most data in the form of individual case reports. A systematic review of all published cases was performed with particular attention to origin, ascertainment and phenotype of the reported homozygosity. A total of 10 cases of Robertsonian translocation (RBT), 6 reciprocal translocation and 19 cases of inversion homozygosity were identified. In RBT homozygosity, the majority of individuals are phenotypically normal, arise from inbreeding within a family that carries a familial translocation, and are ascertained following identification of an existing familial rearrangement rather than any feature specific to the homozygosity. In addition, they are fertile and as expected, their offspring are heterozygous for the translocation. For reciprocal translocations, homozygosity arises in individuals born to related parents from a family who harbor a unique familial translocation. Ascertainment is following investigation of phenotypic abnormalities resulting from consanguinity per se and/or the unmasking of a specific gene mutation. For chromosomal inversions, homozygosity may originate from either related or non-consanguinous parentage. Although many cases are ascertained because of an associated phenotypic abnormality, a high proportion of cases are of normal phenotype and a direct causal relationship is uncertain. There are fewer reports of both Robertsonian and inversion homozygosity than may be expected from the relative frequencies of each class within the population. Keywords: consanguinity; homozygosity; pericentric inversion; reciprocal translocation; Robertsonian translocation INTRODUCTION Structural chromosomal rearrangements detected under light microscopy fall under three broad categories: Robertsonian translocations (RBTs), reciprocal translocations and chromosomal inversions. 1 Data suggest that such rearrangements are present in B0.6-1% of individuals, with reported differences dependant on the population studied (for example unselected newborns or selected prenatal or population studies) and the level of banding techniques used. [2][3][4][5][6] Additional considerations include the proportion of balanced versus unbalanced abnormalities and origin of the rearrangement; that is whether inherited or de novo. The relative prevalence and the underlying mutations rate vary for each category of rearrangement and for specific types within each category.RBTs include non-homologous translocations and homologous forms, with non-homologous RBTs being far more common. 1 Nonhomologous RBTs are the most common recurrent whole-scale structural chromosomal rearrangement in humans being found in approximately 1 in 1000 live births. 2,5 These arise from whole arm exchanges between the short arms of the acrocentric chromosomes (13-15, 21 and 22) to form a single-metacentric chromosome.

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“…Essa é uma condição complexa e etiologicamente heterogênea, caracterizada por anormalidades dos arcos branquiais que envolvem especialmente a face, olhos, orelhas e vértebras. Alterações cromossômicas têm sido descritas em alguns pacientes com esse fenótipo (12,14,16) e o presente relato representou o segundo caso com um cromossomo supernumerário der(22)t(11;22) (11,17) . Por outro lado, não se pode excluir a possibilidade de que os eventos vasculares ocorridos durante a gestação (sangramentos vaginais e contrações uterinas), fatores possivelmente associados à etiologia do espectro óculo-aurículo-vertebral (10,13) , possam ter tido algum efeito sobre o seu fenótipo.…”

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“…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

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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The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families

Cited by 112 publications

References 3 publications

Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/ DiGeorge syndrome region

Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/ DiGeorge syndrome region

Homozygosity for constitutional chromosomal rearrangements: a systematic review with reference to origin, ascertainment and phenotype

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

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