Literature DB >> 6315941

Two cases of ring chromosome 11.

D R Romain, O B Gebbie, R G Parfitt, L M Columbano-Green, R H Smythe, C J Chapman, A Kerr.   

Abstract

Two cases of ring chromosome 11 are reported. Both had mental retardation, microcephaly, and short stature. High resolution G banding in case 1 showed no visible loss of chromatin, the karyotype being assessed as 46,XX,r(11) (p15 X 4q2 X 5). In case 2, a Wilm's tumour developed at 8 months and the child died at 18 months. Cytogenetic analysis by Q banding demonstrated minimal chromosome deletion and the karyotype was considered to be 46,XY,r(11) (p15q25).

Entities:  

Mesh：

Year:  1983        PMID： 6315941      PMCID： PMC1049155          DOI： 10.1136/jmg.20.5.380

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  [A second example of telomeric fusion 2 X chromosomes].

Authors:  J Fraisse; C Laurent; N Collard; M C Biemont; B Dutrillaux
Journal:  Ann Genet       Date:  1975-12

2.  An abnormal large human chromosome identified as an end-to-end fusion of two X's by combined results of the new banding techniques and microdensitometry.

Authors:  C Distèche; A Hagemeijer; J Frederic; D Progneaux
Journal:  Clin Genet       Date:  1972       Impact factor: 4.438

3.  Ring 11 chromosome (46,xx,r11(p15q25)).

Authors:  M Valente; H Muller; R S Sparkes
Journal:  Hum Genet       Date:  1977-05-10       Impact factor: 4.132

4.  [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

5.  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
  5 in total
  5 in total

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

Authors:  S Daniele; F Pecorelli; L Tiepolo; R Armellini; F S Liotti
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1986       Impact factor: 3.117

2.  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

Review 3.  Constitutional ring chromosomes and tumour suppressor genes.

Authors:  N Tommerup; R Lothe
Journal:  J Med Genet       Date:  1992-12       Impact factor: 6.318

4.  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

5.  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
  5 in total

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