Literature DB >> 6660249

Ring chromosome 6: variability in phenotypic expression.

J N Peeden, P Scarbrough, K Taysi, R S Wilroy, S Finley, F Luthardt, P Martens, P N Howard-Peebles.   

Abstract

We present four children with a ring chromosome 6. Clinically, these cases are quite variable. A review of ten previously reported cases also suggests difficulty of phenotype-karyotype correlation in patients with a ring 6.

Entities:  

Mesh：

Year:  1983        PMID： 6660249     DOI： 10.1002/ajmg.1320160413

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  9 in total

Review 1.  Autosomal ring chromosomes in human genetic disorders.

Authors:  Moh-Ying Yip
Journal:  Transl Pediatr       Date:  2015-04

2.  Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.

Authors:  A J Mears; T Jordan; F Mirzayans; S Dubois; T Kume; M Parlee; R Ritch; B Koop; W L Kuo; C Collins; J Marshall; D B Gould; W Pearce; P Carlsson; S Enerbäck; J Morissette; S Bhattacharya; B Hogan; V Raymond; M A Walter
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025

3.  Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25.

Authors:  B Pirola; L Bortotto; S Giglio; E Piovan; A Janes; R Guerrini; O Zuffardi
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

4.  Erroneous diagnosis of fetal alcohol syndrome in a patient with ring chromosome 6.

Authors:  C Römke; K Heyne; J Stewens; E Schwinger
Journal:  Eur J Pediatr       Date:  1987-07       Impact factor: 3.183

5.  Interstitial deletion of chromosome 6q: precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting.

Authors:  N Rubtsov; G Senger; H Kuzcera; A Neumann; C Kelbova; K Junker; V Beensen; U Claussen
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

6.  Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome.

Authors:  G Pierquin; N Van Regemorter; C Fourneau; J Bormans; M Foerster; E Damis; N Cremer-Perlmutter; C M Lapiere; E Vamos
Journal:  Hum Genet       Date:  1991-09       Impact factor: 4.132

7.  Mosaic ring chromosome 6 in an infant with significant patent ductus arteriosus and multiple congenital anomalies.

Authors:  Seung Jae Lee; Dong Kyun Han; Hwa Jin Cho; Young Kuk Cho; Jae Sook Ma
Journal:  J Korean Med Sci       Date:  2012-07-25       Impact factor: 2.153

8.  Molecular cytogenetic characterisation of a novel de novo ring chromosome 6 involving a terminal 6p deletion and terminal 6q duplication in the different arms of the same chromosome.

Authors:  Nikolai Paul Pace; Frideriki Maggouta; Melissa Twigden; Isabella Borg
Journal:  Mol Cytogenet       Date:  2017-03-23       Impact factor: 2.009

9.  Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.

Authors:  Laura Ciocca; Cecilia Surace; Maria Cristina Digilio; Maria Cristina Roberti; Pietro Sirleto; Antonietta Lombardo; Serena Russo; Valerio Brizi; Simona Grotta; Claudio Cini; Adriano Angioni
Journal:  BMC Med Genomics       Date:  2013-02-11       Impact factor: 3.063
  9 in total

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