Literature DB >> 641950

Partial trisomy 18 in a family with a translocation (18;21)(q21;q22).

M Niazi, D V Coleman, P Saldaña-Garcia.   

Abstract

A family is described in which 2 sibs had similar congenital abnormalities. Chromosome investigation of the mother and another child disclosed they were carriers of a translocation t(18;21)(q21;q22). The karyotype of one of the abnormal infants was determined and was found to be consistent with partial trisomy 18,46,XY,-21,+der (21),t(18;21) ((18pter leads to 18q21::21q22 leads to 2 lqter)mat.

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Year:  1978        PMID： 641950      PMCID： PMC1013665          DOI： 10.1136/jmg.15.2.148

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


  7 in total

1.  The E syndrome (trisomy 17-18) resulting from a maternal chromosomal translocation.

Authors:  H R BRODIE; L DALLAIRE
Journal:  Can Med Assoc J       Date:  1962-09-08       Impact factor: 8.262

2.  Chromosome preparations of leukocytes cultured from human peripheral blood.

Authors:  P S MOORHEAD; P C NOWELL; W J MELLMAN; D M BATTIPS; D A HUNGERFORD
Journal:  Exp Cell Res       Date:  1960-09       Impact factor: 3.905

3.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

4.  Trisomy 18 with an E-G translocation (46,XY,21-t(21q18q)+). Identification of the component chromosomes by several laboratory techniques.

Authors:  M M Cohen; A B Finch; H A Lubs
Journal:  Ann Genet       Date:  1972-03

5.  Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.

Authors:  A I Taylor
Journal:  J Med Genet       Date:  1968-09       Impact factor: 6.318

6.  Inclusion of satellites in an 18/21 translocation chromosome shown by ammonical-silver staining (sat-banding) in case of partial trisomy 18.

Authors:  R L Neu; C C Ortega; G A Barg; W Pinto; L I Gardner; W M Howell; T E Denton
Journal:  J Med Genet       Date:  1976-12       Impact factor: 6.318

7.  The trisomy 18 syndrome with an E/G translocation.

Authors:  D Dziekanowska; P Dziuba; T Sobański
Journal:  Hum Genet       Date:  1976-03-12       Impact factor: 4.132
  7 in total
  3 in total

Review 1.  Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations.

Authors:  P Jalbert; B Sele
Journal:  J Med Genet       Date:  1979-12       Impact factor: 6.318

2.  Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing.

Authors:  P Jalbert; B Sele; H Jalbert
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

3.  Trisomy 18q. A case report and review of karyotype-phenotype correlations.

Authors:  R Matsuoka; S Matsuyama; Y Yamamoto; Y Kuroki; I Matsui
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
  3 in total

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