Literature DB >> 6982670

Partial trisomy 13 due to maternal translocation t(7;13)(p22q14).

M A Martin-Lucas, A Pérez-Castillo, J A Abrisqueta, M L de Torres, M J Martin-Sempere, J Del Mazo, V Aller.   

Abstract

The third child of a mother with a balanced translocation (7;13) revealed a partial trisomy of chromosome 13. The cytogenetic study by conventional techniques and GTG, QFQ, THA and CBG banding techniques showed the chromosomal complement of the proposita to be 46,XX,-7,+t(7;13)(7qter leads to 7p22::13q14 leads to 13qter). A prominent intensely fluorescent satellite was observed on the 13q- of the patient's grand-mother. This satellite was not found on any chromosome in any other member of the family.

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Year:  1982        PMID: 6982670

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


  3 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

2.  Elucidation of the centromere involvement in an inversion (13) by fluorescent in situ hybridisation.

Authors:  P L Gordon; J D Dalton; P R Martens; A T Tharapel; R S Wilroy
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

3.  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

  3 in total

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