scholarly journals Aniridia, Gonadoblastoma, Wilms' Tumor and Deletion 11p13

1998 ◽  
Vol 41 (1) ◽  
pp. 29-33
Author(s):  
Hvězdoslav Stefan ◽  
Vladimír Semecký
Keyword(s):  
Mental Retardation ◽  
Wilms Tumor ◽  
Mentally Retarded ◽  
Tumor Diagnosis ◽  
Common Finding ◽  
Chromosome 11 ◽  
Early Occurrence

An incidence of bilateral gonadoblastoma in a 23-month old, mentally retarded boy with congenital sporadic aniridia, undescended dysgenetic testes, deletion of a chromosome (11) (p1302p14.2) and a later occurring unilateral Wilms' tumor is reported. The patient was treated by bilateral gonadectomy, nephrectomy, and chemotherapy, and is alive and well five years later. Another three aniridia/gonablastoma observations from the literature are discussed, two of them without and one in combination with Wilms' tumor. Diagnosis of gonadoblastoma remained unsuspected in two cases until autopsy and in another two cases it was done at surgery. A comparison of four cases reveals common finding - aniridia, dysgentic gonads, genital abnormalities, mental retardation, deletion of 11p13, early occurrence and bilaterality of gonadoblastoma.

scholarly journals Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells.

1989 ◽  
Vol 9 (4) ◽  
pp. 1799-1803 ◽  
Author(s):  
A E Reeve ◽  
S A Sih ◽  
A M Raizis ◽  
A P Feinberg
Keyword(s):  
Mental Retardation ◽  
Tumor Cells ◽  
Germ Line ◽  
Wilms Tumor ◽  
Globin Gene ◽  
Allelic Loss ◽  
Chromosomal Band ◽  
Chromosome 11 ◽  
Gamma Globin ◽  
Wagr Syndrome

Children with associated Wilms' tumor, aniridia, genitourinary malformations, and mental retardation (WAGR syndrome) frequently have a cytogenetically visible germ line deletion of chromosomal band 11p13. In accordance with the Knudson hypothesis of two-hit carcinogenesis, the absence of this chromosomal band suggests that loss of both alleles of a gene at 11p13 causes Wilms' tumor. Consistent with this model, chromosomes from sporadically occurring Wilms' tumor cells frequently show loss of allelic heterozygosity at polymorphic 11p15 loci, and therefore it has been assumed that allelic loss extends proximally to include 11p13. We report here that in samples from five sporadic Wilms' tumors, allelic loss occurred distal to the WAGR locus on 11p13. In cells from one tumor, mitotic recombination occurred distal to the gamma-globin gene on 11p15.5. Thus, allelic loss in sporadic Wilms' tumor cells may involve a second locus on 11p.

Loss of allelic heterozygosity at a second locus on chromosome 11 in sporadic Wilms' tumor cells

1989 ◽  
Vol 9 (4) ◽  
pp. 1799-1803
Author(s):  
A E Reeve ◽  
S A Sih ◽  
A M Raizis ◽  
A P Feinberg
Keyword(s):  
Mental Retardation ◽  
Tumor Cells ◽  
Germ Line ◽  
Wilms Tumor ◽  
Globin Gene ◽  
Allelic Loss ◽  
Chromosomal Band ◽  
Chromosome 11 ◽  
Gamma Globin ◽  
Wagr Syndrome

Children with associated Wilms' tumor, aniridia, genitourinary malformations, and mental retardation (WAGR syndrome) frequently have a cytogenetically visible germ line deletion of chromosomal band 11p13. In accordance with the Knudson hypothesis of two-hit carcinogenesis, the absence of this chromosomal band suggests that loss of both alleles of a gene at 11p13 causes Wilms' tumor. Consistent with this model, chromosomes from sporadically occurring Wilms' tumor cells frequently show loss of allelic heterozygosity at polymorphic 11p15 loci, and therefore it has been assumed that allelic loss extends proximally to include 11p13. We report here that in samples from five sporadic Wilms' tumors, allelic loss occurred distal to the WAGR locus on 11p13. In cells from one tumor, mitotic recombination occurred distal to the gamma-globin gene on 11p15.5. Thus, allelic loss in sporadic Wilms' tumor cells may involve a second locus on 11p.

Chromosomal Imbalance in the Aniridia-Wilms' Tumor Association: 11p Interstitial Deletion

PEDIATRICS ◽  
1978 ◽  
Vol 61 (4) ◽  
pp. 604-610 ◽  
Author(s):  
Vincent M. Riccardi ◽  
Eva Sujansky ◽  
Ann C. Smith ◽  
Uta Francke
Keyword(s):  
Mental Retardation ◽  
Birth Defect ◽  
Wilms Tumor ◽  
Ambiguous Genitalia ◽  
Interstitial Deletion ◽  
Clinical Feature ◽  
Chromosome 11 ◽  
Chromosomal Imbalance ◽  
Characteristic Clinical Feature ◽  
Tumor Association

The triad of aniridia, ambiguous genitalia, and mental retardation (AGR triad) is the characteristic clinical feature of three unrelated patients with previously unreported chromosome 11 short arm interstitial deletions. A Wilms' tumor in one patient establishes one cause for the aniridia-Wilms' tumor association. The genetic heterogeneity of aniridia, the AGR triad, and Wilms' tumor are demonstrated, and Wilms' tumor is indicated to be a neoplastic birth defect which can result from a variety of embryologic insults, some of which may be chromosomal or heritable.

scholarly journals А clinical case of WAGRO syndrome

2020 ◽  
Vol 15 (2) ◽  
pp. 19-24
Author(s):  
Natella V. Sukhanova ◽  
Ludmila A. Katargina ◽  
Rena A. Zinchenko ◽  
Andrey V. Marakhonov ◽  
Tatjana A. Vasilieva
Keyword(s):  
Mental Retardation ◽  
Clinical Case ◽  
Wilms Tumor ◽  
Chromosome 11 ◽  
Genetic Syndrome ◽  
Genitourinary System ◽  
Speech Delays ◽  
Dependent Probe

WAGRO syndrome is a rare genetic syndrome that includes Wilms tumor, aniridia, genitourinary system abnormalities, mental retardation, and obesity. The syndrome is associated with deletions of the short arm of chromosome 11 (11p), where the PAX6 and WT1 genes are located. We present the clinical case of a 7-year-old boy with aniridia, polar cataract, and concomitant neuromotor, psychomotor, and speech delays. Evaluation of the childs karyotype followed by confirmation using multiplex ligation-dependent probe amplification showed the presence of a deletion including in the 11p13-p14 region.

Suppression of tumorigenicity in Wilms tumor by the p15.5-p14 region of chromosome 11

Science ◽  
1991 ◽  
Vol 254 (5029) ◽  
pp. 293-295 ◽  
Author(s):  
S. Dowdy ◽  
C. Fasching ◽  
D Araujo ◽  
K. Lai ◽  
E Livanos ◽  
...  
Keyword(s):  
Wilms Tumor ◽  
Chromosome 11

PREVALENCE OF HOMOCYSTINURIA AMONG THE MENTALLY RETARDED: EVALUATION OF A SPECIFIC SCREENING TEST

PEDIATRICS ◽  
1967 ◽  
Vol 40 (4) ◽  
pp. 586-589
Author(s):  
George Link Spaeth ◽  
G. Winston Barber
Keyword(s):  
United States ◽  
Mental Retardation ◽  
Northern Ireland ◽  
Screening Test ◽  
Mentally Retarded ◽  
The United States ◽  
The Other ◽  
Other Hand

The prevalence of homocystinuria in patients with mental retardation institutionalized in the United States is about 0.02%; this is lower than a previous estimation from Northern Ireland (0.3%). On the other hand, about 5% of patients with dislocated lenses may be expected to have the disease. A silver-nitroprusside test which is almost completely specific for homocystine has been evaluated. It should be useful for screening.

MENTAL RETARDATION IN A FAMILY WITH PHENYLKETONURIA AND MILD HYPERPH ENYLALANINEMIA

PEDIATRICS ◽  
1969 ◽  
Vol 44 (5) ◽  
pp. 655-660
Author(s):  
Bernard E. Cohen ◽  
Arieh Szeinberg ◽  
Wifred Berman ◽  
Yermiahu Aviad ◽  
Moshe Crispin ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Mentally Retarded ◽  
Biochemical Abnormality ◽  
Maternal Uncle ◽  
The Family ◽  
Phenylalanine Metabolism ◽  
Inbred Family

A highly inbred family with five mentally retarded persons is described. Two sibs presented typical characteristics of phenylketonuria, while one mentally retarded sib did not show any biochemical abnormality. The mother and maternal uncle had mild hyperphenylalaninemia. It is pointed out in the discussion that, while the mental retardation (at least in some of these subjects) may be independent of disturbances of phenylalanine metabolism, it is possible also to explain all the findings in the family on a unified basis, involving a variant hyperphenylalaninemia with tolerance increasing with age and "maternal phenylketonuia."

ELECTROENCEPHALOGRAPHIC AND ETIOLOGIC FINDINGS IN MENTAL RETARDATION

PEDIATRICS ◽  
1963 ◽  
Vol 31 (3) ◽  
pp. 478-485
Author(s):  
Gerald D. LaVeck ◽  
Felix de la Cruz
Keyword(s):  
Mental Retardation ◽  
Metabolic Disorders ◽  
Mentally Retarded ◽  
Motor Dysfunction ◽  
Diagnostic Aid ◽  
Mentally Retarded Children ◽  
Mental Subnormality ◽  
Etiologic Diagnosis

A series of 578 institutionalized mentally retarded patients was evaluated by a multi-discipline approach in order to establish a presumptive etiologic diagnosis. Abnormal electroencephalographic findings were found to be related to the age of the patient, the severity of retardation, and the presence of seizures or motor dysfunction. In this series 65.9% had abnormal tracings, and the most frequent abnormality was a focal change in 18.7%. However, focal abnormalities correlated with seizures and motor dysfunction so that no specific electroencephalographic aberration was characteristic of mental subnormality. Abnormal tracings were most frequent in nonseizure patients when subnormality was caused by intoxication, new growths, metabolic disorders, infectious processes, trauma, and encephalopathy of unknown cause in decreasing order of frequency. Abnormalities were seen in 36.4% of "cultural-familial" defectives and those whose intellectual defect was presumably due to psychologic factors. It is believed that electroencephalography is a valuable diagnostic aid in the evaluation of mentally retarded children.

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