Literature DB >> 3086186

Congenital ocular and other systemic abnormalities associated with ring-11 chromosome.

S Daniele, F Pecorelli, L Tiepolo, R Armellini, F S Liotti.   

Abstract

The ocular and systemic abnormalities in a boy with ring chromosome 11 [46, XY/46, XY, r(11) (p 15.5----q25] are described. The ocular anomalies consisted of bilateral hypermetropia, microcornea, anterior chamber cleavage syndrome with prominent Wölfflin nodes, and cartwheel configuration of the anterior iris leaf. The systemic changes consisted of skeletal, muscular and articular defects, obesity, cryptorchidism, and mild mental retardation.

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Year:  1986        PMID： 3086186     DOI： 10.1007/bf02143078

Source DB:  PubMed          Journal:  Graefes Arch Clin Exp Ophthalmol        ISSN： 0721-832X            Impact factor:   3.117


  18 in total

1.  Anomalies associated with partial deletion of long arm of chromosome 11.

Authors:  L G Linarelli; K G Pai; S F Pan; H M Rubin
Journal:  J Pediatr       Date:  1975-05       Impact factor: 4.406

2.  Aniridia caused by a heritable chromosome 11 deletion.

Authors:  H M Hittner; V M Riccardi; U Francke
Journal:  Ophthalmology       Date:  1979-06       Impact factor: 12.079

3.  The 11q -- syndrome.

Authors:  J Frank; V M Riccardi
Journal:  Hum Genet       Date:  1977-02-11       Impact factor: 4.132

4.  Two cases of ring chromosome 11.

Authors:  D R Romain; O B Gebbie; R G Parfitt; L M Columbano-Green; R H Smythe; C J Chapman; A Kerr
Journal:  J Med Genet       Date:  1983-10       Impact factor: 6.318

5.  Peters' anomaly associated with partial deletion of the long arm of chromosome 11.

Authors:  J B Bateman; I H Maumenee; R S Sparkes
Journal:  Am J Ophthalmol       Date:  1984-01       Impact factor: 5.258

6.  [Ring-shaped chromosome 11 (46, XX, r11). A new case].

Authors:  J M Retbi; O Raoul; M C Allemon; J C Dayras
Journal:  Nouv Presse Med       Date:  1981-01-24

7.  Ring chromosome 11 [46,XX,r(11) (p15q25)] associated with clinical features of the 11q- syndrome.

Authors:  N Niikawa; Y Jinno; T Tomiyasu; Y Fukushima; K Kudo
Journal:  Ann Genet       Date:  1981

8.  Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings.

Authors:  A Schinzel; P Auf der Maur; H Moser
Journal:  J Med Genet       Date:  1977-12       Impact factor: 6.318

9.  Congenital glaucoma and other ocular abnormalities associated with pericentric inversion of chromosome 11.

Authors:  W L Broughton; K N Rosenbaum; G R Beauchamp
Journal:  Arch Ophthalmol       Date:  1983-04

10.  Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report.

Authors:  S R Andersen; P Geertinger; H W Larsen; M Mikkelsen; A Parving; S Vestermark; M Warburg
Journal:  Ophthalmologica       Date:  1977       Impact factor: 3.250
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  3 in total

1.  Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.

Authors:  Alexandra Galvão Gomes; Carlos H Paiva Grangeiro; Luiz R Silva; Flávia G Oliveira-Gennaro; Ciro S Pereira; Tatiana M Joaquim; Rodrigo A Panepucci; Jeremy A Squire; Lucia Martelli
Journal:  Mol Syndromol       Date:  2016-11-17

2.  De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease.

Authors:  Ying Peng; Ruiyu Ma; Yingjie Zhou; Yan Xia; Juan Wen; Yanghui Zhang; Ruolan Guo; Haoxian Li; Qian Pan; Rui Zhang; Chengyuan Tang; Desheng Liang; Lingqian Wu
Journal:  Mol Cytogenet       Date:  2015-11-09       Impact factor: 2.009

3.  Endocrine abnormalities in ring chromosome 11: a case report and review of the literature.

Authors:  Renata Lange; Caoê Von Linsingen; Fernanda Mata; Aline Barbosa Moraes; Mariana Arruda; Leonardo Vieira Neto
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2015-10-15
  3 in total

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