Aniridia, mental retardation and an unbalanced reciprocal translocation of chromosomes 8 and 11 with an interstitial deletion of 11p

Gödde-Salz, Elisabeth; Behnke, Horst

doi:10.1007/bf00441719

Cited by 18 publications

(2 citation statements)

References 6 publications

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“…Two patients have been described with Wilms tumor, aniridia, genitourinary abnormalities and mental retardation (WAGR) and deletions of llp13 due to apparently unbalanced translocations of this region [ Godde-Salz and Behnke, 1981;Puissant et al, 19881. Molecular studies on the patient with the t(5;ll)(qll;pl3) by h i ssant et al [19881 demonstrated a deletion encompassing the gene for catalase (CAT).…”

Section: Addendummentioning

confidence: 99%

Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia

1989

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A father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;11)(q13.1;p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13.

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Section: Addendummentioning

confidence: 99%

Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia

1989

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“…Aniridia is not confined to this chromosome aberration and it can also be a feature of various other aberrations including trisomy 13. Hypernephroma and gonadoblastoma manifest themselves in about a quarter to a third of patients with the syndrome and are, after the cardiac malformations, the second most frequent cause of reduced survival. 39 and familial insertional translocations are occasionally found.4'A2 A pair of monozygous twins were concordant for aniridia, but discordant for hypernephroma.43 Since the gene coding for the enzyme catalase (CAT) is also localised in 11pl3 and is deleted in almost all WAGRS patients (serum enzyme activity reduced to about 50% of normal), CAT determination can be helpful for the detection of submicroscopic deletions.…”

Section: Cytogeneticsmentioning

confidence: 99%

Microdeletion syndromes, balanced translocations, and gene mapping.

Schinzel

1988

Journal of Medical Genetics

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SUMMARY High resolution prometaphase chromosome banding has allowed the detection of discrete chromosome aberrations which escaped earlier metaphase examinations. Consistent tiny deletions have been detected in some well established malformation' syndromes: an interstitial deletion in 15q11/12 in the majority of patients with the Prader-Willi syndrome and in a minority of patients with the Angelman (happy puppet) syndrome; a terminal deletion of 17pl3.3 in most patients examined with the Miller-Dieker syndrome; an interstitial deletion of 8q23-3/24.1 in a large majority of patients with the Giedion-Langer syndrome; an interstitial deletion of lipl3 in virtually all patients with the WAGR (Wilms' tumour-aniridia-gonadoblastoma-retardation) syndrome; and an interstitial deletion in 22qll in about one third of patients with the DiGeorge sequence. In addition, a combination of chromosome prometaphase banding and DNA marker studies has allowed the localisation of the genes for retinoblastoma and for Wilms' tumour and the clarification of both the autosomal recessive nature of the mutation and the possible somatic mutations by which the normal allele can be lost in retina and kidney cells. After a number of X linked genes had been mapped, discrete deletions in the X chromosome were detected by prometaphase banding with specific attention paid to the sites of the gene(s) in males who had from one to up to four different X linked disorders plus mental retardation. Furthermore, the detection of balanced translocations in probands with disorders caused by autosomal dominant or X linked genes has allowed a better insight into the localisation of these genes. In some females with X linked disorders, balanced X;autosomal translocations have allowed the localisation of X linked genes at the breakpoint on the X chromosome. Balanced autosome;autosome translocations segregating with autosomal dominant conditions have provided some clues to the gene location of these conditions. In two conditions, Greig cephalopolysyndactyly and dominant aniridia, two translocation families with one common breakpoint have allowed quite a confident location of the genes at the common breakpoint at 7pl3 and llpl3, respectively.

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