Literature DB >> 437789

Prenatal diagnosis and postnatal follow-up of an abnormal child with two de novo apparently balanced translocations.

C Stoll, E Flori, J Macler, R Renaud.   

Abstract

By prenatal diagnosis two apparently unrelated reciprocal translocations involving chromosomes 6/15 and 13/14 were revealed in a fetus in whom echography demonstrated an abdominal tumor. Pregnancy continued. At birth the child had dysmorphia and hydronephrosis, for which surgery was performed. The psychomotor development was delayed. These abnormalities may be the result of the loss of a small amount of chromosomal material accompanying these translocations.

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Year:  1979        PMID: 437789     DOI: 10.1007/bf00273207

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


  4 in total

1.  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

2.  [A new technic of analysis of the human karyotype].

Authors:  B Dutrillaux; J Lejeune
Journal:  C R Acad Hebd Seances Acad Sci D       Date:  1971-05-17

3.  Localization of heterochromatin in human chromosomes.

Authors:  F E Arrighi; T C Hsu
Journal:  Cytogenetics       Date:  1971

4.  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

  4 in total
  4 in total

1.  A complex chromosomal rearrangement detected prenatally and studied by fluorescence in situ hybridization.

Authors:  D A Batista; C M Tuck-Muller; J E Martinez; W G Kearns; P L Pearson; G Stetten
Journal:  Hum Genet       Date:  1993-09       Impact factor: 4.132

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

4.  Nonrandom distribution of exchange points in patients with reciprocal translocations.

Authors:  C Stoll
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

  4 in total

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