Literature DB >> 302670

Partial 4q duplication due to inherited der(20), t(4;20)(q25;q13)mat.

R S Sparkes, U Francke, H Muller, K Toomey.   

Abstract

A boy with mental and growth retardation associated with congenital anomalies has a partial duplication of the distal 4q chromosome region as a result of inheritance of a t(4:20) from his mother. Comparison with twelve other patients from the literature indicates that similar clinical features may be associated with this chromosome change suggesting a partial 4q duplication syndrome.

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Year:  1977        PMID： 302670

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  5 in total

1.  Partial trisomy 4q: two cases with a familial translocation t(4;18)(q27;q23).

Authors:  M Stella; A Bonfante; G Ronconi; G Rossi
Journal:  Hum Genet       Date:  1979-04-05       Impact factor: 4.132

Review 2.  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

3.  Partial 4q duplication due to inherited der(13),t(4;13)(q26;q34)mat in a girl with a deficiency of factor X.

Authors:  C Stoll; M P Roth
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

4.  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

5.  Partial trisomy 4q: two cases resulting from a familial translocation t(4;18)(q27;p11).

Authors:  A Bonfante; M Stella; G Rossi
Journal:  Hum Genet       Date:  1979-11-01       Impact factor: 4.132
  5 in total

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