Computer-Assisted Analysis of Chromosomal Abnormalities: Detection of a Deletion in Aniridia/ Wilms' Tumor Syndrome

Ladda, Roger L.; Atkins, Leonard; Littlefield, John W.; Neurath, Peter W.; Marimuthu, K. M.

doi:10.1126/science.185.4153.784

Cited by 48 publications

(17 citation statements)

References 8 publications

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“…Figure 3 shows high-resolution idiograms of the normal chromosomes 8 and 11 with arrows pointing to the presumed break points. The composition of the rearranged chromosomes is expressed in Paris Con ference (1971) nomenclature as follows: der(8) = 8qter--8p21.2: : 11 q 14.4-»-1 lqter (this interpretation is consistent with the computer profiles of Ladda et al (1974) showing that part of 8p is missing from this derivative chromosome); d er(ll) -8pter…”

Section: Cytogenetic Studiessupporting

confidence: 60%

Aniridia-Wilms’ tumor association: evidence for specific deletion of 11p13

Francke

Holmes

Atkins

et al. 1979

Cytogenet Genome Res

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380

103

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A 7-year-old boy with aniridia, Wilms’ tumor, and mental retardation, previously reported as having an interstitial deletion of the short arm of chromosome 8 resulting from a t(8p+;11q–) translocation (Ladda et al., 1974), has been restudied using high-resolution trypsin-Giemsa banding of prometaphase chromosomes. The results revealed a complex rearrangement with four break points in 8p, 11p, and 11q, leading to a net loss of an interstitial segment of 11p (region pl407→pl304) but not of 8p. His red blood cells contained normal activities of glutathione reductase (gene on 8p) and lactate dehydrogenase A (gene on 11p12), indicating a gene dosage consistent with the chromosomal findings. The revised interpretation of this case agrees with seven others reported as having aniridia and interstitial lip deletions in establishing the distal half of band 11p13 as the site of gene(s) which lead to aniridia and predispose to Wilms’ tumor if present in a hemizygous state. Possible relationships between heterozygous deletion of specific chromosomal bands llpl3 and 13ql4 and the autosomal dominant disorders aniridia, Wilms’ tumor, and retinoblastoma, respectively, are discussed.

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Section: Cytogenetic Studiessupporting

confidence: 60%

Aniridia-Wilms’ tumor association: evidence for specific deletion of 11p13

Francke

Holmes

Atkins

et al. 1979

Cytogenet Genome Res

Self Cite

380

103

View full text Add to dashboard Cite

show abstract

“…Fraumeni and Glass [3] examined 5 cases and found normal karyo types. 1 case described by Ladda et al [6] was reported to have an interstitial deletion of the short arm of chromosome 8. We have recently seen a case of aniridia, cataract and gonadoblastoma, but no Wilms' tumour, in a child with an interstitial deletion of chro mosome 11.…”

mentioning

confidence: 99%

Aniridia, Cataract and Gonadoblastoma in a Mentally Retarded Girl with Deletion of Chromosome 11

Andersen¹,

Geertinger²,

Larsen³

et al. 1978

Ophthalmologica

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“…The association of Wilms' tumor in five of 15 cases of sporadic aniridia was reported by Fraumeni and Glass (1968). Ladda et al (1974) recently, reported the partial deletion of chromosome 8 in this syndrome. The association of sporadic aniridia-Wilms' tumor and deletion in the short arm of chromosome 8 has important implications for the genetic causes of childhood cancer and the two-mutation model of tumorigenesis (Kundson and Strong, 1972).…”

Section: Discussionmentioning

confidence: 99%

“…Otherwise, chromosomal aberation in cases of aniridia-Wilms' tumor syndrome have been detected recently- (Ladda et al, 1974;Andersen et al, 1978). Thus, this syndrome has attracted interest from the teratogenic and onchogenic points of view.…”

Section: Introductionmentioning

confidence: 99%