Literature DB >> 6094051

Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature.

C Turleau, J de Grouchy, M F Tournade, M F Gagnadoux, C Junien.   

Abstract

Three patients (two females, one male) are reported with bilateral aniridia, Wilms' tumor, more or less moderate mental retardation, decreased catalase activity, and del 11p13. These and 34 case reports from the literature are discussed with respect to: sex ratio, maternal age, type of chromosomal imbalance and frequency of associated rearrangements, prevalence of aniridia and other eye disorders, predisposition to tumor development, genitourinary anomalies, growth and mental retardation, and catalase involvement. Possible gene relationship within the complex locus and with neighbouring 11p genes is discussed.

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Year:  1984        PMID: 6094051     DOI: 10.1111/j.1399-0004.1984.tb01071.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  23 in total

1.  A 7.5 Mb sequence-ready PAC contig and gene expression map of human chromosome 11p13-p14.1.

Authors:  B Gawin; A Niederführ; N Schumacher; H Hummerich; P F Little; M Gessler
Journal:  Genome Res       Date:  1999-11       Impact factor: 9.043

Review 2.  renal tumors and tumor-like lesions in pediatric patients.

Authors:  J M Kissane; L P Dehner
Journal:  Pediatr Nephrol       Date:  1992-07       Impact factor: 3.714

Review 3.  Mouse chromosome 2.

Authors:  L D Siracusa; C M Abbott
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

4.  Rapid isolation of moderate and highly polymorphic DNA fragments mapping close to WT (Wilms' tumour) and AN2 (aniridia) on chromosome 11.

Authors:  P A Boyd; S Christie; N D Hastie; D J Porteous
Journal:  Hum Genet       Date:  1989-03       Impact factor: 4.132

5.  [Terminal renal failure in aniridia-Wilms syndrome].

Authors:  H Wilms; E Back; G Kirste
Journal:  Klin Wochenschr       Date:  1986-09-01

6.  Phenotypic severity scoring system and categorisation for prune belly syndrome: application to a pilot cohort of 50 living patients.

Authors:  Daniel G Wong; Michelle K Arevalo; Niccolo Maria Passoni; Nida S Iqbal; Thomas Jascur; Adam J Kern; Emma J Sanchez; Arthi Satyanarayan; Jyothsna Gattineni; Linda A Baker
Journal:  BJU Int       Date:  2018-09-19       Impact factor: 5.588

7.  Characterization of a panel of somatic cell hybrids for subregional mapping along 11p and within band 11p13. Subdivision of the WAGR complex region.

Authors:  P Couillin; M Azoulay; I Henry; N Ravisé; M C Grisard; C Jeanpierre; F Barichard; P Metezeau; J J Candelier; W Lewis
Journal:  Hum Genet       Date:  1989-05       Impact factor: 4.132

8.  Cloning, functional study and comparative mapping of Luzp2 to mouse chromosome 7 and human chromosome 11p13-11p14.

Authors:  Min Wu; Edward J Michaud; Dabney K Johnson
Journal:  Mamm Genome       Date:  2003-05       Impact factor: 2.957

Review 9.  Nephrotic syndrome in the 1st year of life.

Authors:  R Habib
Journal:  Pediatr Nephrol       Date:  1993-08       Impact factor: 3.714

10.  Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.

Authors:  A O Wilkie; H C Zeitlin; R H Lindenbaum; V J Buckle; N Fischel-Ghodsian; D H Chui; D Gardner-Medwin; M H MacGillivray; D J Weatherall; D R Higgs
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

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