Literature DB >> 1150274

De novo (11;13) translocation.

C Fonatsch, S D Flatz.   

Abstract

A male infant is described with unusual facial appearance, clubfeet, and moderate hydrocephalus internus without obvious deficiency in mental and physical development. Cytogenetic studies revealed a karyotype of 45,XY,--C,--D,+t(C;D). A chromosome 11 and a 13 are involved in the formation of the translocation chromosome. The long arm of chromosome 13 is linearly attached to the end of the long arm of chromosome 11 (tandem translocation). Chromosome material of the distal part of the long arm of chromosome 11, as well as the short arm plus the centromere of chromosome 13 seem to have been lost.

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Year:  1975        PMID: 1150274     DOI: 10.1007/bf00735739

Source DB:  PubMed          Journal:  Humangenetik        ISSN: 0018-7348


  4 in total

1.  Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

Authors:  A Schinzel; K Hayashi; W Schmid
Journal:  Humangenetik       Date:  1975-12-23

2.  A case of (13q;18q) translocation with proximal 13q monosomy.

Authors:  Y Suzuki; K Ono; S Oka; T Matsubara; M Arima; Y Nakagome
Journal:  Hum Genet       Date:  1977-10-14       Impact factor: 4.132

3.  Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13.

Authors:  S A Lynch; K A Ashcroft; S Zwolinski; C Clarke; J Burn
Journal:  J Med Genet       Date:  1995-03       Impact factor: 6.318

4.  Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings.

Authors:  A Schinzel; P Auf der Maur; H Moser
Journal:  J Med Genet       Date:  1977-12       Impact factor: 6.318

  4 in total

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