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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Veröffentlicht in:Mol Cytogenet
Hauptverfasser: Vrachnis, Nikolaos, Papoulidis, Ioannis, Vrachnis, Dionysios, Siomou, Elisavet, Antonakopoulos, Nikolaos, Oikonomou, Stavroula, Zygouris, Dimitrios, Loukas, Nikolaos, Iliodromiti, Zoi, Pavlidou, Efterpi, Thomaidis, Loretta, Manolakos, Emmanouil
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2021
Schlagworte:
Case Report
Online Zugang: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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