Literature DB >> 12668162

Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literature.

Yannick Perrin1, Marie-Claude Addor, Nicole Sekarski, Anne-Claude Gaide, Daniel F Schorderet.   

Abstract

A newborn female with partial trisomy for the distal part of the long arm of the chromosome 14 (14q24 --> qter) resulting from a paternal balanced translocation (3;14) is described. We compare her phenotype with eight other individuals with trisomy 14q24 --> qter.

Mesh：

Year:  2002        PMID： 12668162     DOI： 10.1016/s0003-3995(02)01135-8

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


  2 in total

1.  Recombinant chromosome with partial 14 q trisomy due to maternal pericentric inversion.

Authors:  Hande Küçük Kurtulgan; Leyla Özer; Malik Ejder Yıldırım; Evrim Ünsal; Süleyman Aktuna; Volkan Baltacı; Nejmiye Akkuş; İlhan Sezgin
Journal:  Mol Cytogenet       Date:  2015-11-21       Impact factor: 2.009

Review 2.  A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review.

Authors:  Ji Yoon Han; Joonhong Park
Journal:  Genes (Basel)       Date:  2021-09-07       Impact factor: 4.096
  2 in total

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