Literature DB >> 2570022

Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry.

A Cooke1, J L Tolmie, J M Colgan, C M Greig, J M Connor.   

Abstract

A child with impaired intelligence, minor dysmorphisms, obesity and genital hypoplasia was found to have an apparently balanced translocation, 46,XY,t(4;14)(q12;q13), following cytogenetic analysis. The same rearrangement was also detected in the child's father, who had similar phenotypic abnormalities to his son. Detailed study of flow karyotypes produced from lymphoblastoid cell lines established that in both patients the translocation was in fact unbalanced with approximately 11 million base pairs of DNA (corresponding to about 6.0% of chromosome 4 or 11.0% of chromosome 14) being lost.

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Year:  1989        PMID： 2570022     DOI： 10.1007/BF00274155

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


  10 in total

1.  Molecular cytogenetics: toward dissection of the contiguous gene syndromes.

Authors:  B S Emanuel
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

2.  X chromosome deletions detectable by flow cytometry in some patients with steroid sulphatase deficiency (X-linked ichthyosis).

Authors:  A Cooke; E F Gillard; J R Yates; M J Mitchell; D A Aitken; D M Weir; N A Affara; M A Ferguson-Smith
Journal:  Hum Genet       Date:  1988-05       Impact factor: 4.132

3.  Determination of the DNA content of human chromosomes by flow cytometry.

Authors:  P Harris; E Boyd; B D Young; M A Ferguson-Smith
Journal:  Cytogenet Cell Genet       Date:  1986

4.  Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis.

Authors:  A O Martin; H Northrup; D H Ledbetter; B Trask; G van den Engh; M M Le Beau; A L Beaudet; J W Gray; G Sekhon; N Krassikoff
Journal:  Am J Med Genet       Date:  1988-11

Review 5.  A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4.

Authors:  M H Beall; R E Falk; K L Ying
Journal:  Am J Med Genet       Date:  1988-11

6.  High-resolution analysis of human peripheral lymphocyte chromosomes by flow cytometry.

Authors:  B D Young; M A Ferguson-Smith; R Sillar; E Boyd
Journal:  Proc Natl Acad Sci U S A       Date:  1981-12       Impact factor: 11.205

7.  Excess of mental retardation and/or congenital malformation in reciprocal translocations in man.

Authors:  J P Fryns; A Kleczkowska; E Kubień; H Van den Berghe
Journal:  Hum Genet       Date:  1986-01       Impact factor: 4.132

8.  Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysis.

Authors:  A Cooke; J Tolmie; W Darlington; E Boyd; R Thomson; M A Ferguson-Smith
Journal:  J Med Genet       Date:  1987-02       Impact factor: 6.318

9.  High-resolution chromosome analysis of phenotypically abnormal patients with apparently balanced structural rearrangements.

Authors:  S C Raimondi; F W Luthardt; R L Summitt; P R Martens
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

10.  Mental retardation associated with "balanced" chromosome rearrangements.

Authors:  S J Funderburk; M A Spence; R S Sparkes
Journal:  Am J Hum Genet       Date:  1977-03       Impact factor: 11.025
  10 in total
  3 in total

Review 1.  High-speed chromosome sorting.

Authors:  Sherrif F Ibrahim; Ger van den Engh
Journal:  Chromosome Res       Date:  2004       Impact factor: 5.239

2.  Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations.

Authors:  I A Glass; P Stormer; P T Oei; E Hacking; P D Cotter
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

Review 3.  Directly transmitted unbalanced chromosome abnormalities and euchromatic variants.

Authors:  J C K Barber
Journal:  J Med Genet       Date:  2005-08       Impact factor: 6.318
  3 in total

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