𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Deletion (11)(q14.1q21)

✍ Scribed by Stratton, Robert F. ;Lazarus, Kenneth H. ;Ritchie, Elizabeth J. L. ;Bell, Ann Marie

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
378 KB
Volume
49
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

We report on a 4‐year‐old girl with moderate developmental delay, horseshoe kidney, bilateral duplication of the ureters with right upper pole obstruction, hydronephrosis and nonfunction, and subsequent Wilms tumor of the right lower pole. She had an interstitial delection of the long arm of chromosome 11 involving the region 11(q14.1q21). Β© 1994 Wiley‐Liss, Inc.

πŸ“œ SIMILAR VOLUMES

Interstitial deletion 2q14q21
Interstitial deletion 2q14q21
✍ Frydman, Moshe ;Steinberger, Julia ;Shabtai, Fiorella ;Katznelson, Mariassa Bat- πŸ“‚ Article πŸ“… 1989 πŸ› John Wiley and Sons 🌐 English βš– 376 KB πŸ‘ 1 views
Familial t(11;13)(q21;q14) and the dupli
Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype
✍ Park, Jonathan P. ;McDermet, Malanie K. ;Doody, Ann M. ;Marin-Padilla, J. Miguel πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 492 KB πŸ‘ 1 views

## Abstract Cases of duplication of distal 11q or proximal 13q have been reported independently. A specific translocation resulting in duplication of distal 11q, [der(22)t(11;22)(q23;q11)], has been documented in over 40 cases. We report on a male fetus with chromosomal excess of both distal 11q an

Pseudoachondroplasia with de novo deleti
Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)]
✍ Ikegawa, Shiro; Ohashi, Hirofumi; Hosoda, Fumie; Fukushima, Yoshimitsu; Ohki, Mi πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 15 KB πŸ‘ 2 views

Pseudoachondroplasia (PSACH) is a relatively common osteochondrodysplasia characterized clinically by short-limbed short stature with normal face, and radiographically by platyspondyly and dysplasias of epiphyses and metaphyses of the tubular bones. Recently, mutation of cartilage oligomeric matrix

Deletion of 7q11.21-q11.23 and infantile
Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2
✍ Benno RΓΆthlisberger; IrΓ¨ne HoignΓ©; Andreas R. Huber; Wolfgang Brunschwiler; Andr πŸ“‚ Article πŸ“… 2010 πŸ› John Wiley and Sons 🌐 English βš– 127 KB πŸ‘ 1 views

## Abstract We report on the clinical and cytogenetic findings and on the array‐based characterization of an interstitial 7q11.21‐q11.23 deletion initially recognized by standard karyotyping in a 15‐month‐old female patient. Beginning at the age of 3 months and 2 weeks the patient had severe infant