Literature DB >> 6467661

Familial pericentric inversion (14) (p11;q24) with a rec dup(q) in one offspring.

P Kaiser, W Förster, P Steuernagel, U Hillig, K P Herberg.   

Abstract

A new case of pericentric inversion (14) is presented with the breakpoints in p11q24. The same breakpoints have not been described previously. Within the family there is one daughter having a rec(14)dup(q) besides healthy carriers.

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Year:  1984        PMID： 6467661     DOI： 10.1111/j.1399-0004.1984.tb00793.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  4 in total

Review 1.  Distal trisomy 14q. I. Clinical and cytogenetical studies.

Authors:  S Gilgenkrantz; J Vigneron; M O Peter; J L Dufier; M Teboul; M Chery; G Keyeux; M P Lefranc
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

2.  Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review.

Authors:  Morteza Hemmat; Omid Hemmat; Arturo Anguiano; Fatih Z Boyar; Mohammed El Naggar; Jia-Chi Wang; Borris T Wang; Trilochan Sahoo; Renius Owen; Mary Haddadin
Journal:  Mol Cytogenet       Date:  2013-05-02       Impact factor: 2.009

3.  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 4.  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
  4 in total

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