Literature DB >> 3430545

Deletion (13)(q13q14.3) with retinoblastoma: confirmation and extension of a recognisable pattern of clinical features in retinoblastoma patients with 13q deletion.

T Motegi1, K Ikeda, K Watanabe, Y Yanagawa, K Minoda.   

Abstract

A girl with retinoblastoma and a del(13)(q13q14.3) is presented. This case helps to confirm and extend our previous observations regarding a recognisable facial pattern in retinoblastoma patients with 13q deletion involving 13q14 and its adjacent segments.

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Mesh：

Year:  1987        PMID： 3430545      PMCID： PMC1050349          DOI： 10.1136/jmg.24.11.696

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  4 in total

1.  Lymphocyte chromosome survey in 42 patients with retinoblastoma: effort to detect 13q14 deletion mosaicism.

Authors:  T Motegi
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

2.  High rate of detection of 13q14 deletion mosaicism among retinoblastoma patients (using more extensive methods).

Authors:  T Motegi
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

3.  Retinoblastoma and retinoma occurring in a child with a translocation and deletion of the long arm of chromosome 13.

Authors:  C G Keith; G C Webb
Journal:  Arch Ophthalmol       Date:  1985-07

4.  A decreasing tendency for cytogenetic abnormality in peripheral lymphocytes of retinoblastoma patients with 13q14 deletion mosaicism.

Authors:  T Motegi; K Minoda
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
  4 in total
  3 in total

Review 1.  13q13.1-q13.2 deletion in tetralogy of Fallot: clinical report and a literature review.

Authors:  Gregory Costain; Candice K Silversides; Christian R Marshall; Mary Shago; Nicholas Costain; Anne S Bassett
Journal:  Int J Cardiol       Date:  2010-07-03       Impact factor: 4.164

2.  Radiographic findings in 13q-syndrome.

Authors:  S C Kaste; C B Pratt
Journal:  Pediatr Radiol       Date:  1993

3.  Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH.

Authors:  R Caselli; C Speciale; C Pescucci; V Uliana; K Sampieri; M Bruttini; I Longo; S De Francesco; T Pramparo; O Zuffardi; R Frezzotti; A Acquaviva; T Hadjistilianou; A Renieri; F Mari
Journal:  J Hum Genet       Date:  2007-05-15       Impact factor: 3.172
  3 in total

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