Literature DB >> 1262021

Partial trisomy 2q and familial translocation t(2;12)(q31;q24).

B Zabel, S Hansen, W Hartmann.   

Abstract

Report is given of a boy with trisomy of the distal part of the long arm of chromosome 2 (q31 leads to ter) due to a balanced 2/12 translocation in the mother: 46,XX,t(2;12) (q31;q24). Other phenotypically normal carriers of this balanced translocation are the patients sister and grandfather. The patient shows a variety of dysplastic signs mainly of the face.

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Mesh：

Year:  1976        PMID： 1262021     DOI： 10.1007/BF00569983

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


  3 in total

1.  [Familial balanced translocation t(2; 13) (q32; q33) and partial trisomy 2q].

Authors:  A Forabosco; B Dutrillaux; G Toni; G Tamborino; G Cavazzuti
Journal:  Ann Genet       Date:  1973-12

2.  Banding in human chromosomes treated with trypsin.

Authors:  H C Wang; S Fedoroff
Journal:  Nat New Biol       Date:  1972-01-12

3.  [Familial translocation 2-D].

Authors:  N Ricci; B Dallapiccola; G Cotti
Journal:  Ann Genet       Date:  1968-06
  3 in total
  6 in total

1.  Familial t(X;2) (p223;q323) with partial trisomy 2q and male and female balanced carriers.

Authors:  C Turleau; F Chavin-Colin; J de Grouchy; G Repessé; P Beauvais
Journal:  Hum Genet       Date:  1977-06-10       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 trisomy 2q and familial translocation t(2;18)(q31;p11).

Authors:  L Wisniewski; R Chan; J V Higgins
Journal:  Hum Genet       Date:  1978-12-18       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.  Interstitial deletion of the long arm of chromosome 2 in a polymalformed newborn--karyotype: 46,XX,del(2)(q21;q24).

Authors:  J P Fryns; B Van Bosstraeten; H Malbrain; H Van den Berghe
Journal:  Hum Genet       Date:  1977-11-10       Impact factor: 4.132

6.  Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations.

Authors:  M Moller; D García-Cruz; H Rivera; J Sánchez-Corona; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
  6 in total

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