Literature DB >> 2791334

Tandem Y/6 translocation with partial deletion 6 (p23----pter).

P C Kelly1, W W Blake, J R Davis.   

Abstract

An infant with multiple malformations had a de novo tandem translocation of the Y chromosome to chromosome 6. The karyotype 45,X,tan(Y;6) (q12;p23) resulted in a partial monosomy of 6p23----pter. Many of the effects of ring chromosome 6 are present in this case.

Entities:  

Mesh：

Year:  1989        PMID： 2791334

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

Review 1.  Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome.

Authors:  J O Van Hemel; B Eussen; E Wesby-van Swaay; B A Oostra
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

2.  Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.

Authors:  Patrícia Bs Celestino-Soper; Cindy Skinner; Richard Schroer; Patricia Eng; Jayant Shenai; Malgorzata Mj Nowaczyk; Deborah Terespolsky; Donna Cushing; Gayle S Patel; Ladonna Immken; Alecia Willis; Joanna Wiszniewska; Reuben Matalon; Jill A Rosenfeld; Roger E Stevenson; Sung-Hae L Kang; Sau Wai Cheung; Arthur L Beaudet; Pawel Stankiewicz
Journal:  Mol Cytogenet       Date:  2012-04-05       Impact factor: 2.009

Review 3.  Distal 6p deletion syndrome: a report of a case with anterior chamber eye anomaly and review of published reports.

Authors:  C J Law; A M Fisher; I K Temple
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

4.  Chromosomal map of human brain malformations.

Authors:  Nataliya Tyshchenko; Iosif Lurie; Albert Schinzel
Journal:  Hum Genet       Date:  2008-06-18       Impact factor: 4.132

Review 5.  Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.

Authors:  Douglas B Gould; Mohamad S Jaafar; Mark K Addison; Francis Munier; Robert Ritch; Ian M MacDonald; Michael A Walter
Journal:  BMC Med Genet       Date:  2004-06-25       Impact factor: 2.103
  5 in total

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