Literature DB >> 6607705

Distal trisomy 14q due to tandem duplication (q24 leads to q32).

E Orye, H Van Bever, H Desimpel.   

Abstract

An elongated long arm of chromosome 14 was found in a male child. GTG-banding analysis indicated a tandem duplication (q24 leads to q32). The child showed several congenital anomalies in common with the ten cases of distal trisomy 14q, known at present.

Entities:  

Mesh：

Year:  1983        PMID： 6607705

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


  3 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.  14q32.3-qter trisomic segment: a case report and literature review.

Authors:  Nicoletta Villa; Agnese Scatigno; Serena Redaelli; Donatella Conconi; Paola Cianci; Clotilde Farina; Chiara Fossati; Leda Dalprà; Silvia Maitz; Angelo Selicorni
Journal:  Mol Cytogenet       Date:  2016-08-05       Impact factor: 2.009

Review 3.  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
  3 in total

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