Duplication of distal 11q and 22p occurrence in two unrelated families

Najafzadeh, Touran M.; Dumars, Kenneth W.; Opitz, John M.

doi:10.1002/ajmg.1320080313

Cited by 6 publications

(1 citation statement)

References 9 publications

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“…The supernumerary der(22)t( 1 1;22) syndrome is characterized by mental deficiency, malformed ears with preauricular pits or tags, a high-arched or cleft palate, micrognathia, and congenital heart defects (Donnenfeld et aZ., 1990). The reported neurological abnormalities of supernumerary der(22)t( 11 ;22) syndrome include microcephaly, delayed psychomotor development, dilated ventricles of the brain (Fraccaro et aZ., 1980), meningomyelocoele with hydrocephaly (Najafzadeh and Dumars, 1981), and dilatation of the lateral ventricles (Abeliovich and Carmi, 1990). However, Dandy-Walker malformation in association with a supernumerary der(22)t( 1 1;22) has rarely been described in the literature (Katafuchi et al, 1990;Dean et al, 1991).…”

Section: Introductionmentioning

confidence: 94%

PRENATAL DIAGNOSIS OF SUPERNUMERARY der(22)t(11;22) ASSOCIATED WITH THE DANDY-WALKER MALFORMATION IN A FETUS

et al. 1996

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Section: Introductionmentioning

confidence: 94%

PRENATAL DIAGNOSIS OF SUPERNUMERARY der(22)t(11;22) ASSOCIATED WITH THE DANDY-WALKER MALFORMATION IN A FETUS

et al. 1996

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?Partial trisomy 22 and 11? due to a paternal 11;22 translocation associated with hirschsprung disease

B¹,

Nützenadel²,

Querfeld³

et al. 1986

Eur J Pediatr

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The 11;22 translocation seems to be the most frequent, non-Robertsonian, translocation in man. Approximately 50 cases with an unbalanced karyotype 47,XX (or XY),+der(22), t(11q;22q), due to a 3:1 meiotic disjunction in the parental translocation carrier, have been reported in the literature. We present an additional patient with that chromosome aberration, whose father was shown to be the translocation carrier. He presented with many of the more or less typical signs of the syndrome, but had an extraordinary additional finding, namely Hirschsprung disease. Although anal stenosis is a rather frequent finding in the syndrome, Hirschsprung disease has never been described in the literature. Furthermore the most important genetic and cytogenetic data on that chromosome aberration are given, including implications for genetic counselling.

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11q trisomy detected by fluorescence in situ hybridization

et al. 1993

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Takano T, Yamanouchi Y, Kawashima S, Date M, Hashira S, Kida M, Abe T, Nakahori Y, Nakagome Y. 11q trisomy detected by fluorescence in situ hybridization. Clin Genet 1993: 44: 324–328. © Munksgaard, 1993 A patient with psychomotor developmental delay, multiple minor anomalies, congenital heart disease and left inguinal hernia is reported. His karyotype was 45,X/46,X,+mar (3 : 37 cells), and the marker chromosome was identified as t(Y;11) (q12;q14?) using fluorescence in situ hybridization and fluorescent chromosome painting. He was diagnosed as mosaic for de novo 11q trisomy.

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Duplication of distal 11q and 22p occurrence in two unrelated families

Cited by 6 publications

References 9 publications

PRENATAL DIAGNOSIS OF SUPERNUMERARY der(22)t(11;22) ASSOCIATED WITH THE DANDY-WALKER MALFORMATION IN A FETUS

PRENATAL DIAGNOSIS OF SUPERNUMERARY der(22)t(11;22) ASSOCIATED WITH THE DANDY-WALKER MALFORMATION IN A FETUS

?Partial trisomy 22 and 11? due to a paternal 11;22 translocation associated with hirschsprung disease

11q trisomy detected by fluorescence in situ hybridization

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