Literature DB >> 3169736

Retinal/macular pigmentation in conjunction with ring 14 chromosome.

P J Howard1, D Clark, J Dearlove.   

Abstract

A number of constant features can be ascribed to patients who have a ring 14 chromosome. Recent publications have described pigmentation of the retinal/macular area of the eye and suggested that it may also be a constant feature of the syndrome. We describe a patient who has a ring 14 with a terminal deletion but no retinal pigmentation and compare our case with other informative cases. We suggest that a region on chromosome 14 proximal to q32.2 may be involved in controlling these changes.

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Year:  1988        PMID： 3169736     DOI： 10.1007/bf00702856

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


  12 in total

1.  A ring 14 chromosome with deleted short arm.

Authors:  A P Amarose; E Dorus; P R Huttenlocher; S Csaszar
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

2.  Ring 14 chromosome: association with seizures.

Authors:  B M Lippe; R S Sparkes
Journal:  Am J Med Genet       Date:  1981

3.  [Ring chromosome 14. I. A case report on homogeneous r(14)].

Authors:  O Raoul; F Razavi; M C Lescs; A Bouhanna
Journal:  Ann Genet       Date:  1984

4.  [Ocular anomalies in phenotype 46,XY,r(14) (ring chromosome 14)].

Authors:  M Guillot; J L Dufier; F Perignon; G Lenoir; J de Grouchy; Y Pinaudeau
Journal:  Arch Fr Pediatr       Date:  1983-05

5.  [2 new cases of ring chromosome 14].

Authors:  B Caille; M O Rethoré; O Raoul; Y Huet de Barochez; J L Dufier; C Roy; J P Harpey; L Valdes; J Noseda
Journal:  Ann Pediatr (Paris)       Date:  1985-05

6.  Ring 14 syndrome with decreased bone mineral content in two pubertal girls.

Authors:  A Ieshima; K Takeshita; K Yamamoto
Journal:  Jinrui Idengaku Zasshi       Date:  1983-03

7.  Multiple congenital malformations in a child with ring 14 chromosome.

Authors:  R Dzarlieva
Journal:  God Zb Med Fak Skopje       Date:  1977

8.  Ocular findings in a patient with deletion short arm chromosome 5 (cri du chat) and ring chromosome 14.

Authors:  D I Clark; P J Howard; A Patterson
Journal:  Trans Ophthalmol Soc U K       Date:  1986

9.  [Ring chromosome 14. II. A case report of r(14) mosaicism. The r(14) phenotype].

Authors:  M O Rethoré; B Caille; Y Huet de Barochez; M C de Blois; A Ravel; J Lejeune
Journal:  Ann Genet       Date:  1984

10.  Ring chromosome 14 in a mentally retarded girl.

Authors:  L Iselius; M Ritzén; T H Bui; K Olsson; O Eklöf
Journal:  Acta Paediatr Scand       Date:  1980-11
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  7 in total

1.  Position effect modifying gene expression in a patient with ring chromosome 14.

Authors:  Roberta Santos Guilherme; Mariana Moysés-Oliveira; Anelisa Gollo Dantas; Vera Ayres Meloni; Mileny Esbravatti Colovati; Leslie Domenici Kulikowski; Maria Isabel Melaragno
Journal:  J Appl Genet       Date:  2015-08-28       Impact factor: 3.240

Review 2.  Terminal deletion (14)(q32.3): a new case.

Authors:  N Telford; D A Thomson; M J Griffiths; S Ilett; J L Watt
Journal:  J Med Genet       Date:  1990-04       Impact factor: 6.318

Review 3.  Delineation of 14q32.3 deletion syndrome.

Authors:  A P Ortigas; C K Stein; L L Thomson; J J Hoo
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

4.  Mechanisms of ring chromosome formation, ring instability and clinical consequences.

Authors:  Roberta S Guilherme; Vera F Ayres Meloni; Chong A Kim; Renata Pellegrino; Sylvia S Takeno; Nancy B Spinner; Laura K Conlin; Denise M Christofolini; Leslie D Kulikowski; Maria I Melaragno
Journal:  BMC Med Genet       Date:  2011-12-21       Impact factor: 2.103

5.  Molecular analysis redefines three human chromosome 14 deletions.

Authors:  R F Wintle; T Costa; R H Haslam; I E Teshima; D W Cox
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

6.  Congenital ocular anomaly in an infant with trisomy 14 mosaicism.

Authors:  Jun Ho Choi; Youn Joo Choi; So Young Kim
Journal:  Korean J Ophthalmol       Date:  2012-07-24

Review 7.  Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

Authors:  Berardo Rinaldi; Alessandro Vaisfeld; Sergio Amarri; Chiara Baldo; Giuseppe Gobbi; Pamela Magini; Erto Melli; Giovanni Neri; Francesca Novara; Tommaso Pippucci; Romana Rizzi; Annarosa Soresina; Laura Zampini; Orsetta Zuffardi; Marco Crimi
Journal:  Orphanet J Rare Dis       Date:  2017-04-11       Impact factor: 4.123
  7 in total

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