Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities

BACKGROUND: Interstitial microdeletions in 1p are extremely rare, as very few cases have been reported postnatally and only one prenatally, yet. There is a variability of phenotypic findings such as hypotonia, facial dysmorphisms, mild microcephaly, with being most common developmental delay. CASE P...

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Detalles Bibliográficos
Autores principales: Dagklis, Themistoklis, Papageorgiou, Elena, Siomou, Elisavet, Paspaliaris, Vassilis, Zerva, Christina, Chatzis, Panagiotis, Thomaidis, Loretta, Manolakos, Emmanouil, Papoulidis, Ioannis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5053025/
https://www.ncbi.nlm.nih.gov/pubmed/27713767
http://dx.doi.org/10.1186/s13039-016-0288-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5053025/
https://www.ncbi.nlm.nih.gov/pubmed/27713767
http://dx.doi.org/10.1186/s13039-016-0288-y

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