Molecular definition of de novo and genetically transmitted WAGR-associated rearrangements of 11p13

Lavedan, Christian; Barichard, F; Azoulay, Martine; Couillin, P.; Gómez, David; Nicolas, H; Quack, B; Rethoré, M O; Noël, Bernard; Junien, Claudine

doi:10.1159/000132726

Cited by 31 publications

(19 citation statements)

References 14 publications

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“…Our patient, however, does not show these clinical features. Lavedan et al (1989) also reported a patient (LEV4) with a duplication of 11 pi 3 who had no obvious dysmorphic signs or malformations but did have mild mental retardation. The milder phenotypic features of our patient, as well as those of LEV4.…”

Section: Discussionmentioning

confidence: 98%

“…Southern hybridization, using DNA probes presumed to be located within the rearranged region, has occa sionally yielded useful data (Lavedan et al, 1989) but does not provide information on the physical location of the probe, as does in situ hybridization. We illustrate here the application of in situ hybridization with a biotinylated single-copy DNA probe combined with Southern blot analysis to identify the origin of an abnormal chromosome 11 in a patient with mild mental retardation but without remarkable dysmorphic signs.…”

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confidence: 99%

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Characterization of a de novo duplication of 11p14→p13, using fluorescent in situ hybridization and Southern hybridization

Speleman

Mannens²,

Redeker³

et al. 1991

Cytogenet Genome Res

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A de novo 11p+ chromosome was found in a child with mild mental retardation but no other remarkable dysmorphic characteristics. Banding studies suggested a duplication of regions 11p13 and 11p14 or regions 11p14 and 11p15. Using fluorescent in situ hybridization and digital imaging microscopy, we mapped probe p32.1 (D11S16) to the proximal part of region lip 14 (lip 14.1) and demonstrated duplication of this probe in our patient. Southern hybridization showed duplication of p32.1 and other probes located at 11pl 3 and 11ρl4, but the gene for α calcitonin (CALCA), located at 11p15, was not duplicated. The application of these techniques led to the identification of the duplication as dir dup(11 )(pter→p 13::p 15.1→qter).

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Section: Discussionmentioning

confidence: 98%

mentioning

confidence: 99%

Characterization of a de novo duplication of 11p14→p13, using fluorescent in situ hybridization and Southern hybridization

Speleman

Mannens²,

Redeker³

et al. 1991

Cytogenet Genome Res

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“…Complete or partial trisomy of 11p, including 11p13, was described before in 11 cases [Aleck et al, 1985;Falk et al, 1973;Fryns et al, 1981Fryns et al, , 1985Lavedan et al, 1989;Ogur et al, 1988;Palmer et al, 1976;Palutke et al, 1980;Sanchez et al, 1974;Speleman et al, 1991;Strobel et al, 1980]. In two of these cases, the duplication was de novo.…”

Section: Discussionmentioning

confidence: 84%

Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: Dose effect of the PAX6 gene product?

et al. 1997

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We report on a girl with a duplication of chromosome band 11p12-->13, which includes the Wilms tumor gene (WT1) and the aniridia gene (PAX6). The girl had borderline developmental delay, mild facial anomalies, and eye abnormalities. Eye findings were also present in most of the 11 other published cases with partial trisomy 11p, including 11p12-->13. Recently, it was shown that introduction of additional copies of the PAX6 gene into mice caused very variable eye abnormalities. Therefore, a PAX6 gene dosage effect is likely to be present in mice and humans. The central nervous system may be less sensitive to an altered PAX6 gene dosage, which is consistent with the borderline developmental delay in the present patient. Urogenital abnormalities were absent in this patient and in most of the other patients with partial trisomy of 11p. Therefore, the effect of a WT1 gene duplication on the embryological development of the urogenital tract remains uncertain.

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“…They all involved matemal inheritance except one case of insenion (Lavedan et al, 1989). Altogether these observations soggest that the asymptomatic carriers presented with an apparently balanced rearrangement.…”

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confidence: 73%

Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family

Henry

Hoovers

Barichard

et al. 1993

Genes Chromosomes & Cancer

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The combined use of qualitative and quantitative analysis of 11p13 polymorphic markers together with chromosomal in situ suppression hybridization (CISS) with biotin labeled probes mapping to 11p allowed us to characterize a complex rearrangement segregating in a family. We detected a pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in the family: an insertion of band 11p13‐p14 carrying the genes for predisposition to Wilms' tumor, WTI, and for aniridia, AN2, into the long arm of chromosome 11 in 11q13‐q14. Asymptomatic balanced carriers were observed over three generations. Classical cytogenetics had failed to detect this anomaly in the balanced carriers, who were first considered to be somatic mosaics for del(11)(p13). Two of these women gave birth to children carrying a deleted chromosome 11, most likely resulting from the loss of the 11p13 band inserted in 11q. Although in both cases the deletion encompassed exactly the same maternally inherited markers, there was a wide variation in clinical expression. One child, with the karyotype 46,XY,del(11)(p13p14), presented the full‐blown WAGR syndrome with aniridia, mental retardation, Wilms' tumor, and pseudohermaphroditism, but also had proteinuria and glomerular sclerosis reminiscent of Drash syndrome. In contrast, the other one, a girl with the karyotype 46,XX,del(11)(p13), only had aniridia. Although a specific set of mutational sites has been observed in Drash patients, these findings suggest that the loss of one copy of the WTI gene can result in similar genital and kidney abnormalities. © 1993 Wiley‐Liss, Inc.

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Molecular definition of de novo and genetically transmitted WAGR-associated rearrangements of 11p13

Cited by 31 publications

References 14 publications

Characterization of a de novo duplication of 11p14→p13, using fluorescent in situ hybridization and Southern hybridization

Characterization of a de novo duplication of 11p14→p13, using fluorescent in situ hybridization and Southern hybridization

Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: Dose effect of the PAX6 gene product?

Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family

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