Literature DB >> 6321191

Wilms' tumor, malformative syndrome, mental retardation and de novo constitutional translocation, t(7;13)(q36;q13).

J L Bernard, M A Baeteman, J F Mattei, C Raybaud, F Giraud.   

Abstract

An apparently balanced de novo constitutional translocation (7;13) (q36;q13) was detected on peripheral lymphocytes and fibroblasts of a 14-month-old boy. The patient presented a facial dysmorphism with hydrocephaly and mental retardation associated with a Wilms' tumor. A pure coincidence of random association cannot be ruled out but one can equally assert the plausibility of a minimal unnoticed deletion or a position effect.

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Year:  1984        PMID: 6321191     DOI: 10.1007/bf00443220

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  18 in total

1.  A syndrome of renal sodium loss and hyponatremia probably resulting from inappropriate secretion of antidiuretic hormone.

Authors:  W B SCHWARTZ; W BENNETT; S CURELOP; F C BARTTER
Journal:  Am J Med       Date:  1957-10       Impact factor: 4.965

2.  Congenital anomalies in children with Wilms' tumor: a new survey.

Authors:  T W Pendergrass
Journal:  Cancer       Date:  1976-01       Impact factor: 6.860

3.  High resolution of human chromosomes.

Authors:  J J Yunis
Journal:  Science       Date:  1976-03-26       Impact factor: 47.728

4.  Congenital anomalies in children with malignancy.

Authors:  N Kobayashi; T Furukawa; T Takatsu
Journal:  Paediatr Univ Tokyo       Date:  1968-07

5.  Long survival in a male with 18-trisomy syndrome and Wilms' tumor.

Authors:  C F Geiser; A M Schindler
Journal:  Pediatrics       Date:  1969-07       Impact factor: 7.124

6.  Further studies on the frequency of constitutional chromosome abnormalities in patients with malignant disease.

Authors:  M L O'Riordan; A O Langlands; D G Harnden
Journal:  Eur J Cancer       Date:  1972-08       Impact factor: 9.162

7.  Familial occurrence of the aniridia-Wilms tumor syndrome with deletion 11p13-14.1.

Authors:  J J Yunis; N K Ramsay
Journal:  J Pediatr       Date:  1980-06       Impact factor: 4.406

8.  Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2.

Authors:  R E Ferrell; A Chakravarti; H M Hittner; V M Riccardi
Journal:  Proc Natl Acad Sci U S A       Date:  1980-03       Impact factor: 11.205

9.  Neoplasms associated with hemihypertophy, Beckwith-Wiedemann syndrome and aniridia.

Authors:  E S Tank; R Kay
Journal:  J Urol       Date:  1980-08       Impact factor: 7.450

10.  Wilms tumor with aniridia/iris dysplasia and apparently normal chromosomes.

Authors:  V M Riccardi; H M Hittner; L C Strong; D J Fernbach; R Lebo; R E Ferrell
Journal:  J Pediatr       Date:  1982-04       Impact factor: 4.406

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  1 in total

Review 1.  Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour.

Authors:  R H Scott; C A Stiller; L Walker; N Rahman
Journal:  J Med Genet       Date:  2006-05-11       Impact factor: 6.318

  1 in total

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