Mild phenotype associated with an interstitial deletion of the long arm of chromosome 1.

We report on a 21 month old child referred to us because of facial dysmorphism and psychomotor retardation. The patient's phenotype was characterised by a wide and receding forehead, broad nasal bridge, redundant retronuchal skin, low set and poorly shaped ears, micrognathia, and small hands an...

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Autores principales: Melis, D, Perone, L, Sperandeo, M P, Sabbatino, M S, Tuzzi, M R, Romano, A, Parenti, G, Andria, G
Formato: Artigo
Lenguaje:Inglês
Publicado: 1998
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051523/
https://ncbi.nlm.nih.gov/pubmed/9863608
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