Literature DB >> 2338344

Partial trisomy of the distal segment 14q.

Y Nakamura1, K Sakai, S Sakuma, E Sato, M Maruyama, T Hashimoto, S Fukuda, Y Nishimi, Y Nakagome, Y Nakahori.   

Abstract

The case of a male infant with duplication of the distal segment of chromosome 14q is described. There was an extra chromosomal segment at the distal end of the long arm of chromosome 17. Banding techniques suggested that the extra segment might be the distal segment of chromosome 14q. DNA analysis using probes from distal 14q as well as from other parts of the genome confirmed that the extra segment consisted of the distal part of 14q. Both the proband's parents and his elder sister had normal karyotypes.

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Year:  1990        PMID： 2338344     DOI： 10.1007/bf00210813

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  8 in total

1.  Distal trisomy 14q.

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

2.  Familial translocation involving chromosomes 6, 14 and 20, identified by quinacrine fluorescence.

Authors:  P W Allderdice; O J Miller; D A Miller; W R Breg; E Gendel; C Zelson
Journal:  Humangenetik       Date:  1971

3.  Duplication of the distal segment of 14q.

Authors:  J F Atkin; S Patil
Journal:  Am J Med Genet       Date:  1983-11

4.  [Distal 14q trisomy].

Authors:  C Turleau; J de Grouchy; F Chavin-Colin; M F Denavit; P Le Touzé
Journal:  Ann Genet       Date:  1983

5.  Distal trisomy 14q syndrome; a case report.

Authors:  A Markkanen; M Somer; A M Nordström
Journal:  Clin Genet       Date:  1984-09       Impact factor: 4.438

6.  Partial trisomy 14q.

Authors:  I Lopez Pajares; A Delicado; P V Cobos; G Lledo; A Peralta
Journal:  Hum Genet       Date:  1979-01-25       Impact factor: 4.132

7.  Tertiary trisomy, 47,XX,+14q--, resulting from maternal balanced translocation, 46,XX,t(14;16)(q11;q24).

Authors:  S R Young; D M Donovan; H A Greer; K Burch; D C Potter
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132

8.  A human Y-chromosome specific repeated DNA family (DYZ1) consists of a tandem array of pentanucleotides.

Authors:  Y Nakahori; K Mitani; M Yamada; Y Nakagome
Journal:  Nucleic Acids Res       Date:  1986-10-10       Impact factor: 16.971
  8 in total
  1 in total

Review 1.  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
  1 in total

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