Literature DB >> 422200

A woman carrier of two apparently unrelated reciprocal translocations: prenatal diagnosis of normal karyotype in the foetus.

G Simoni, E Montali, F Rossella, L Dalprà, F Lo Curto.   

Abstract

Two reciprocal balanced translocations involving chromosomes 2, 9, 12, and 18 were found in the karyotype of a woman with a child showing several congenital malformations at birth. Prenatal cytogenetic diagnosis, performed when a second pregnancy occurred, showed a normal chromosome constitution in the foetus.

Entities:  

Mesh：

Year:  1979        PMID： 422200     DOI： 10.1007/bf00291917

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  6 in total

1.  Partial trisomy 11,46,XX,-3,-20, + der3, + der20,t(3:11:20), resulting from a complex maternal rearrangement of chromosomes 3, 11, 20.

Authors:  C G Palmer; C Poland; T Reed; J Kojetin
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

2.  A double translocation culture t(5;15)t(9;11) with partial deletion of the short arm of chromosome 5. Repository identification No. GM-344.

Authors:  L Jackson; M Barr; M Aronson; A E Greene; L L Coriell
Journal:  Cytogenet Cell Genet       Date:  1975

3.  [Complexe de novo rearrangement involving 4 chromosomes in a newborn infant].

Authors:  J Martinetti; B Noel
Journal:  Ann Genet       Date:  1973-12

4.  [46, XX, 1q-, 2q-, Dq+, 16q+ karyotype in a polymalformed child].

Authors:  J de Grouchy; F Lautmann
Journal:  Ann Genet       Date:  1968-06

5.  Rearrangements involving four chromosomes in a child with congenital abnormalities.

Authors:  M Seabright; N Gregson; E Pacifico; S Mould; J Ryde; J Pearson; A Bradley
Journal:  Cytogenet Cell Genet       Date:  1978

6.  Two reciprocal translocations associated with microcephaly and retardation.

Authors:  E F Bell; D Warburton
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318
  6 in total
  3 in total

1.  Analysis of meiotic segregation in a man heterozygous for two reciprocal translocations using the hamster in vitro penetration system.

Authors:  J P Burns; P R Koduru; M L Alonso; R S Chaganti
Journal:  Am J Hum Genet       Date:  1986-06       Impact factor: 11.025

2.  Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement.

Authors:  A T Tharapel; R Redheendran; C B Mankinen; M K Kukolich
Journal:  J Med Genet       Date:  1984-10       Impact factor: 6.318

3.  A malformed baby with two separate de novo translocations.

Authors:  W E Chewings; T P Cocks; R J Gardner; J E Clarkson
Journal:  J Med Genet       Date:  1982-02       Impact factor: 6.318
  3 in total

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