A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay

BACKGROUND: We report clinical and molecular cytogenetic characterization of a 2 year-old girl with 19p13.2p13.12 microdeletion and compare her clinical features with those of three other patients reported before. RESULT: Array comparative genomic hybridization (aCGH) revealed in the present patient...

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Détails bibliographiques
Auteurs principaux: Natiq, Abdelhafid, Elalaoui, Siham Chafai, Miesch, Sevrine, Bonnet, Celine, Jonveaux, Philippe, Amzazi, Saaïd, Sefiani, Abdelaziz
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2014
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4068972/
https://ncbi.nlm.nih.gov/pubmed/24963350
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-7-40
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