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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Detalles Bibliográficos
Publicado en: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: BioMed Central 2021
Assuntos:
Case Report
Acceso en liña: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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