𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Del11p13/nephroblastoma without aniridia

✍ Scribed by Catherine Turleau; J. Grouchy; Claire Nihoul-Fékété; J. L. Dufier; Françoise Chavin-Colin; Claudine Junien

Publisher
Springer
Year
1984
Tongue
English
Weight
236 KB
Volume
67
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

✦ Synopsis

A patient is reported with del11p13, low catalase level, nephroblastoma, chordee and cryptorchidism, no evident mental retardation, and with normal irides. This unique observation suggests the following order of loci in 11p13, from centromere to telomere: catalase, Wilms tumor, aniridia. The chromosomal origin of nephroblastoma may be more frequent than estimated on the basis of its association with aniridia.

📜 SIMILAR VOLUMES

Familial aniridia and translocation t(4;
Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor
✍ K. O. J. Simola; S. Knuutila; I. Kaitila; Anna Pirkola; Paula Pohja 📂 Article 📅 1983 🏛 Springer 🌐 English ⚖ 697 KB

A family with dominantly inherited aniridia in three generations is presented. All three patients had an apparently balanced chromosome translocation t(4;11)(q22;p13). The patients were otherwise clinically normal and without signs of Wilms' tumor; their erythrocyte catalase activities were within t

Translocation t(5;11)(q13.1;p13) associa
Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia
✍ Pettenati, Mark J. ;Weaver, R. Grey ;Burton, Barbara K. 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 351 KB 👁 1 views

A father a n d daughter with isolated aniridia were observed to have a n apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;ll)(ql3.l;pl3)1. No other clinical characteristics often associated with the deletion of llp13 were observed in this family. This finding, in ass

Aniridia-Wilms' tumor association and 11
Aniridia-Wilms' tumor association and 11p interstitial deletion
✍ J. P. Fryns; J. Beirinckx; E. Sutter; J. Derluyn; J. Francois; H. Berghe 📂 Article 📅 1981 🏛 Springer 🌐 English ⚖ 360 KB

An 11p interstitial deletion is reported in a severely mentally retarded boy with aniridia, genito-urinary anomalies, and distinct craniofacial dysmorphism. At the age of 4 years a large Wilms' tumor of the right kidney was diagnosed.

Mosaic 13 trisomy due to de novo 13/13 t
Mosaic 13 trisomy due to de novo 13/13 translocation with subsequent fission karyotype: 46,XX,-13,+t(13;13)(p11;q11)/46,XX,del(13)(p11)
✍ J. P. Fryns; P. Casaer; H. Berghe 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 254 KB

A severely retarded child with multiple malformations was found to present a mosaic karyotype 46,XX, - 13,+t(13;13)(p11;q11)/46,XX,del(13)(p11), which probably originated as the result of a de novo 13/13 translocation in a parental gamete, followed by postzygotic fission of the translocation chromos