Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search

Autor:	Nikolaos Vrachnis, Ioannis Papoulidis, Dionysios Vrachnis, Elisavet Siomou, Nikolaos Antonakopoulos, Stavroula Oikonomou, Dimitrios Zygouris, Nikolaos Loukas, Zoi Iliodromiti, Efterpi Pavlidou, Loretta Thomaidis, Emmanouil Manolakos
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	6p22.3 deletion Syndrome Developmental delay Intellectual disability Dysmorphism Behavioral abnormalities Genetics QH426-470
Zdroj:	Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-9 (2021)
Druh dokumentu:	article
ISSN:	1755-8166
DOI:	10.1186/s13039-021-00557-y
Popis:	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.
Databáze:	Directory of Open Access Journals
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