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

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 pr...

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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Vrachnis, Nikolaos, Papoulidis, Ioannis, Vrachnis, Dionysios, Siomou, Elisavet, Antonakopoulos, Nikolaos, Oikonomou, Stavroula, Zygouris, Dimitrios, Loukas, Nikolaos, Iliodromiti, Zoi, Pavlidou, Efterpi, Thomaidis, Loretta, Manolakos, Emmanouil
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8310580/
https://ncbi.nlm.nih.gov/pubmed/34303382
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-021-00557-y
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