Literature DB >> 8309761

Radiographic findings in 13q-syndrome.

S C Kaste1, C B Pratt.   

Abstract

Of 169 children with retinoblastoma treated at our institution between 1962 and 1993, 5 had concurrent severe mental retardation, hypotonia, and abnormalities of constitutional chromosome 13. The associated skeletal abnormalities of these 5 children are described and include delayed skeletal maturation, metaphyseal abnormalities, microcrania, facial bone abnormalities, and gracile long bones.

Entities:  

Mesh:

Year:  1993        PMID: 8309761     DOI: 10.1007/BF02012146

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  26 in total

Review 1.  Genetics of retinoblastoma.

Authors:  J François
Journal:  Mod Probl Ophthalmol       Date:  1977

2.  [Trial classification of D group chromosome long arm deletions. Apropos of a 15q- case].

Authors:  C Laurent; B Noel; M David
Journal:  Ann Genet       Date:  1971-03

3.  Multiple congenital anomalies associated with a ring-D chromosome.

Authors:  R C Juberg; M S Adams; W J Venema; M G Hart
Journal:  J Med Genet       Date:  1969-09       Impact factor: 6.318

Review 4.  Constitutional karyotype in retinoblastoma. Case report and review of literature.

Authors:  F Munier; G Pescia; M Jotterand-Bellomo; A Balmer; C Gailloud; F Thonney
Journal:  Ophthalmic Paediatr Genet       Date:  1989-06

5.  Parental origin of mutations of the retinoblastoma gene.

Authors:  T P Dryja; S Mukai; R Petersen; J M Rapaport; D Walton; D W Yandell
Journal:  Nature       Date:  1989-06-15       Impact factor: 49.962

6.  Retinoblastoma and chromosome 13 deletion.

Authors:  A Gencík; P Auf der Maur; A Gencíkova; J Lütschg
Journal:  Helv Paediatr Acta       Date:  1982

7.  Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation.

Authors:  L C Strong; V M Riccardi; R E Ferrell; R S Sparkes
Journal:  Science       Date:  1981-09-25       Impact factor: 47.728

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

Authors:  T Motegi; K Ikeda; K Watanabe; Y Yanagawa; K Minoda
Journal:  J Med Genet       Date:  1987-11       Impact factor: 6.318

9.  Hypophosphataemic rickets after ifosfamide treatment in children.

Authors:  L E Sweeney
Journal:  Clin Radiol       Date:  1993-05       Impact factor: 2.350

10.  Classification of chromosomal eye syndromes.

Authors:  R O Howard
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

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  1 in total

1.  Patients with retinoblastoma and chromosome 13q deletions have increased chemotherapy-related toxicities.

Authors:  Rachel C Brennan; Ibrahim Qaddoumi; Catherine A Billups; Tracy Kaluzny; Wayne L Furman; Matthew W Wilson
Journal:  Pediatr Blood Cancer       Date:  2016-07-13       Impact factor: 3.167

  1 in total

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