Literature DB >> 7677149

De novo apparently balanced reciprocal translocation between 5q11.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly.

Y Fukushima1, H Ohashi, K Wakui, H Nishimoto, M Sato, T Aihara.   

Abstract

We report on a girl with Klippel-Feil anomaly, type A1 brachydactyly, and minor facial anomalies. She has an apparently balanced de novo reciprocal translocation between 5q11.2 and 17q23. The possible significance of this chromosomal abnormality is discussed.

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Year:  1995        PMID： 7677149     DOI： 10.1002/ajmg.1320570317

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


  5 in total

1.  De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia.

Authors:  Manolis J Papagrigorakis; Philippos N Synodinos; Constandinos P Daliouris; Caterina Metaxotou
Journal:  Eur J Pediatr       Date:  2003-06-24       Impact factor: 3.183

2.  Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles.

Authors:  C M Armour; D E Bulman; A G Hunter
Journal:  J Med Genet       Date:  2000-04       Impact factor: 6.318

3.  Hemp, an mbt domain-containing protein, plays essential roles in hematopoietic stem cell function and skeletal formation.

Authors:  Hiroaki Honda; Keiyo Takubo; Hideaki Oda; Kenjiro Kosaki; Tatsuya Tazaki; Norimasa Yamasaki; Kazuko Miyazaki; Kateri A Moore; Zen-ichiro Honda; Toshio Suda; Ihor R Lemischka
Journal:  Proc Natl Acad Sci U S A       Date:  2011-01-20       Impact factor: 11.205

Review 4.  Type III Klippel-Feil syndrome: case report and review of associated craniofacial anomalies.

Authors:  Venkatesh G Naikmasur; Atul P Sattur; R N Kirty; Arpita Rai Thakur
Journal:  Odontology       Date:  2011-05-20       Impact factor: 2.634

5.  Brachdactyly Instigated as a Result of Mutation in GDF5 and NOG Genes in Pakistani Population.

Authors:  Samiullah Khan; Muhammad Mudassir; Naqab Khan; Asmatullah Marwat
Journal:  Pak J Med Sci       Date:  2018 Jan-Feb       Impact factor: 1.088
  5 in total

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