학술논문
Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search.
Document Type
Article
Author
Source
Subject
*DEVELOPMENTAL delay
*CHROMOSOMES
*COGNITIVE development
*INTELLECTUAL disabilities
*22Q11 deletion syndrome
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Language
ISSN
1755-8166
Abstract
Background: The interstitial 6p22.3 deletions concern rare chromosomal events affecting numerous aspects of both physical and mental development. The syndrome is characterized by partial deletion of chromosome 6, which may arise in a number of ways. Case presentation: We report a 2.8-year old boy presenting with developmental delay and mild dysmorphisms. High-resolution oligonucleotide microarray analysis revealed with high precision a 2.5 Mb interstitial 6p deletion in the 6p22.3 region which encompasses 13 genes. Conclusions: Identification and in-depth analysis of cases presenting with mild features of the syndrome will sharpen our understanding of the genetic spectrum of the 6p22.3 deletion. [ABSTRACT FROM AUTHOR]