Tandem duplication of proximal 5q Academic Article

•  
• Overview
•  
• Research
•  
• Identity
•  
• Additional Document Info
•  
• View All
•  

Overview

journal

• Annales de Genetique

abstract

• A 3.5-year-old boy with a de novo tandem duplication 5q11.1ampersand-flag-changerarr;5q15 is reported. Since the physical stigmata of seven liveborn cases with 5q proximal duplications are variable and inconspicuous, a recognizable syndrome could not be delineated. On the contrary, the associated developmental delay seems to be severe in duplications extending into 5q22 and mild in duplications 5q11ampersand-flag-changerarr;q13.

authors

• Restrepo Fernández, Carlos Martin
• A. Rojas-Martínez
• C. Medina
• D. Garcia-Cruz
• H. Rivera
• M. Moller

publication date

• 1990-1-1

edition

• 33

Research

keywords

• Christianity
• Trisomy 5q Chromosome 5

Identity

International Standard Serial Number (ISSN)

• 0003-3995

Additional Document Info

number of pages

• 3

start page

• 228

end page

• 230