Literature DB >> 2624261

Inheritance and phenotypic expression of a t(7;9)(q36;q34)mat.

C M Krauss1, K J Liptak, A Aggarwal, D Robinson.   

Abstract

We describe a subtle familial chromosome rearrangement which involves 7q36 and 9q34. The clinical manifestations of 3 apparently balanced individuals with presumed identical translocation breakpoints are presented. In addition, the phenotypes of 2 cytogenetically unbalanced sibs in the same nuclear family are compared.

Mesh：

Year:  1989        PMID： 2624261     DOI： 10.1002/ajmg.1320340412

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 in total

1.  9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.

Authors:  Maria Teresa Bonati; Chiara Castronovo; Alessandra Sironi; Dario Zimbalatti; Ilaria Bestetti; Milena Crippa; Antonio Novelli; Sara Loddo; Maria Lisa Dentici; Juliet Taylor; Françoise Devillard; Lidia Larizza; Palma Finelli
Journal:  Neurogenetics       Date:  2019-06-17       Impact factor: 2.660

2.  Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).

Authors:  E D'Alessandro; C Ligas; M L Lo Re; M P Marcanio; T Gentile; G Del Porto
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

3.  Double partial trisomy 9q34.1-->qter and 21pter-->q22.11: FISH and clinical findings.

Authors:  T Mattina; M Pierluigi; D Mazzone; S Scardilli; C Perfumo; F Mollica
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

Review 4.  Holoprosencephaly and sacral agenesis in a fetus with a terminal deletion 7q36-->7qter.

Authors:  N Morichon-Delvallez; A L Delezoide; M Vekemans
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318

5.  Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.

Authors:  M Warburg; M Bugge; K Brøndum-Nielsen
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318
  5 in total

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