Literature DB >> 6644770

A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation.

D A Couzin, J L Watt, I A Auchterlonie.   

Abstract

A 6-year-old boy with speech delay and mild mental retardation (IQ 82) was found to have a complex double translocation involving four chromosomes and a total of five breakpoints, two being on the same arm. This resulted in the karyotype 46,XY,t(2;4;7)(7;8)(q14;q31;q11q22;q13). As far as the authors are aware this is the first time that such a complex double translocation has been reported. Both parents had normal karyotypes.

Entities:  

Mesh：

Year:  1983        PMID： 6644770      PMCID： PMC1049158          DOI： 10.1136/jmg.20.5.389

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  7 in total

1.  Familial balanced (7;11;21) translocation and Down's syndrome in two siblings.

Authors:  E Schwinger; M Mikkelsen; M Niesen
Journal:  Clin Genet       Date:  1975-04       Impact factor: 4.438

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

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

3.  A simple technique for demonstrating centromeric heterochromatin.

Authors:  A T Sumner
Journal:  Exp Cell Res       Date:  1972-11       Impact factor: 3.905

4.  Correlation between euploid structural chromosome rearrangements and mental subnormality in humans.

Authors:  P A Jacobs
Journal:  Nature       Date:  1974-05-10       Impact factor: 49.962

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.  A complex translocation involving chromosomes 3,11, and 14 with an interstitial deletion, del(14) (q13q22) in a child with congenital glaucoma and cleft lip and palate.

Authors:  P D Buchanan; K W Rao; C L Doerr; A S Aylsworth
Journal:  Birth Defects Orig Artic Ser       Date:  1978

7.  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
  7 in total
  4 in total

1.  Prenatal diagnosis and follow up of a child with a complex chromosome rearrangement.

Authors:  M H Bogart; C L Bradshaw; O W Jones; J E Schanberger
Journal:  J Med Genet       Date:  1986-04       Impact factor: 6.318

2.  Familial complex autosomal translocations involving chromosomes 7, 8, and 9 exhibiting male and female transmission with segregation and recombination.

Authors:  S Walker; P J Howard; D Hunter
Journal:  J Med Genet       Date:  1985-12       Impact factor: 6.318

3.  De novo translocation heterozygote with three reciprocal translocations.

Authors:  J L Watt; D A Couzin
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318

4.  A complex three breakpoint translocation involving chromosomes 2, 4, and 9 identified by meiotic investigations of a human male ascertained for subfertility.

Authors:  N Saadallah; M Hulten
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
  4 in total

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