Literature DB >> 2610492

Sotos syndrome with a balanced reciprocal translocation t(2;12)(q33.3;q15).

K Tamaki1, K Horie, T Go, T Okuno, H Mikawa, Z Y Hua, T Abe.   

Abstract

A balanced reciprocal translocation, 46,XY, t(2;12), was detected in a male infant who had the characteristic features of Sotos syndrome. His father's karyotype was normal, but his mother and an older brother had the same chromosomal abnormality without a history or clinical features of Sotos syndrome.

Entities:  

Mesh:

Year:  1989        PMID: 2610492

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  2 in total

1.  Facioscapulohumeral muscular dystrophy: aspects of genetic counselling, acceptance of preclinical diagnosis, and fitness.

Authors:  S Eggers; M R Passos-Bueno; M Zatz
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

2.  Small cell lung carcinoma in a patient with Sotos syndrome: are genes at 3p21 involved in both conditions?

Authors:  T R Cole; H E Hughes; M J Jeffreys; G T Williams; M M Arnold
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.