Literature DB >> 6239037

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

A T Tharapel, R Redheendran, C B Mankinen, M K Kukolich.   

Abstract

The occurrence of mosaic Down's syndrome with two independent Robertsonian translocation cell lines is very rare. Such a patient is reported here, in whom an unbalanced Robertsonian translocation between two chromosomes 21 was detected in the majority of cells. The patient also revealed a minor cell line with a second Robertsonian translocation involving a chromosome 21 and a 22. The chromosome translocations detected in this patient were de novo in origin.

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Mesh：

Year:  1984        PMID： 6239037      PMCID： PMC1049328          DOI： 10.1136/jmg.21.5.391

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


  11 in total

1.  A three chromosome translocation involving two homologous chromosomes in a trisomic abortus.

Authors:  M R Creasy; J A Crolla; P E Polani; M H Elliott
Journal:  Clin Genet       Date:  1976-01       Impact factor: 4.438

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

Authors:  C Stoll; E Flori; J Macler; R Renaud
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

3.  Partial trisomy 21.

Authors:  P Aula; J Leisti; H von Koskull
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

4.  Down's syndrome associated with two Robertsonian translocations, 45,XX,-15,-21, + t(15q21q) and 46,XX,-21, + t(21q21q).

Authors:  L Atkins; C S Bartsocas
Journal:  J Med Genet       Date:  1974-09       Impact factor: 6.318

5.  A 21-21 tandem translocation with satellites on both long and short arms.

Authors:  B E Schuh; B R Korf; M J Salwen
Journal:  J Med Genet       Date:  1974-09       Impact factor: 6.318

6.  Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21.

Authors:  E Niebuhr
Journal:  Humangenetik       Date:  1974-01-22

7.  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

8.  Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21.

Authors:  J D Williams; R L Summitt; P R Martens; R A Kimbrell
Journal:  Am J Hum Genet       Date:  1975-07       Impact factor: 11.025

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

Authors:  G Simoni; E Montali; F Rossella; L Dalprà; F Lo Curto
Journal:  Hum Genet       Date:  1979-01-25       Impact factor: 4.132

10.  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
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  1 in total

Review 1.  An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations.

Authors:  M J Clarke; D A Thomson; M J Griffiths; J G Bissenden; A Aukett; J L Watt
Journal:  J Med Genet       Date:  1989-03       Impact factor: 6.318
  1 in total

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