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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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Dagklis, Themistoklis, Papageorgiou, Elena, Siomou, Elisavet, Paspaliaris, Vassilis, Zerva, Christina, Chatzis, Panagiotis, Thomaidis, Loretta, Manolakos, Emmanouil, Papoulidis, Ioannis
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5053025/
https://ncbi.nlm.nih.gov/pubmed/27713767
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-016-0288-y
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