Literature DB >> 304705

[Partial trisomy 13 due to maternal translocation t(2;13)].

F Giraud, J F Mattei, M G Mattei.   

Abstract

The authors report an observation of partial trisomy 13p13 leads to qter and suggest a clinical map of chromosome 13. Increase of fetal hemoglobin seems to be controlled by region 1 of 13q. Bands q13 q14 and q21 seem to be responsible for inner organ malformations. Lastly, the distal segment q22 leads to qter is responsible for trigonocephaly and limb abnormalities.

Entities:  

Mesh：

Year:  1977        PMID： 304705

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


  11 in total

1.  Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.

Authors:  S A Tharapel; R C Lewandowski; A T Tharapel; R S Wilroy
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

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 13q21toqter de novo due to a recombinant chromosome rec(13)dup q.

Authors:  M Habedank
Journal:  Hum Genet       Date:  1979-11-01       Impact factor: 4.132

4.  The phenotype in partial 13q trisomies, apropos of a familial (13;15)(q22;q26) translocation.

Authors:  F Rivas; H Rivera; M L Plascencia; B Ibarra; J M Cantú
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Trisomy 21 for the region 21q223: identification by high-resolution R-banding patterns.

Authors:  J F Mattei; M G Mattei; M A Baeteman; F Giraud
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome.

Authors:  J F Mattei; M G Mattei; J Coignet; F Giraud
Journal:  J Med Genet       Date:  1978-04       Impact factor: 6.318

7.  Clinical, enzyme, and cytogenetic investigations in three new cases of trisomy 8p.

Authors:  J F Mattei; M G Mattei; J P Ardissone; J Coignet; F Giraud
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

8.  Trisomy 13 in a 4-year-old child.

Authors:  C Fernández-Novoa; A Hevia; J J Martínez; V San Martín; H Galera
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

9.  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

10.  The aetiology of the cat eye syndrome reconsidered.

Authors:  G Guanti
Journal:  J Med Genet       Date:  1981-04       Impact factor: 6.318
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