Literature DB >> 6196971

Duplication of the distal segment of 14q.

J F Atkin, S Patil.   

Abstract

We describe a child with duplication of the distal segment of 14q. Her father carries a balanced translocation between chromosomes 14 and 15. A detailed table compares her clinical findings with those of the seven previously published cases and an additional three new cases in an effort to define a recognizable syndrome. Serum alpha-1 antitrypsin levels and PI typing did not help to localize the alpha-1 antitrypsin gene locus.

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Year:  1983        PMID： 6196971     DOI： 10.1002/ajmg.1320160307

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


  7 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.  Partial trisomy of the distal segment 14q.

Authors:  Y Nakamura; K Sakai; S Sakuma; E Sato; M Maruyama; T Hashimoto; S Fukuda; Y Nishimi; Y Nakagome; Y Nakahori
Journal:  Hum Genet       Date:  1990-05       Impact factor: 4.132

3.  Distal trisomy 14q.

Authors:  R V Mikelsaar; T A Ilus; I W Lurie
Journal:  J Med Genet       Date:  1987-06       Impact factor: 6.318

4.  Duplication 14(q31----qter).

Authors:  D M Carr; K Jones-Quartey; M V Vartanian; H Moore-Kaplan
Journal:  J Med Genet       Date:  1987-06       Impact factor: 6.318

5.  Distal duplication 14q: report of three cases and further delineation of the syndrome.

Authors:  S L Sklower; E C Jenkins; S L Nolin; C J Duncan; D Warburton; K A Yeboa; A Merkrebs; R Schwartz; K Wisniewski; C Stimson
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting.

Authors:  P Georgiades; C Chierakul; A C Ferguson-Smith
Journal:  J Med Genet       Date:  1998-10       Impact factor: 6.318

Review 7.  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
  7 in total

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