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Interstitial Chromosome 3p14.1 Deletion due to a Maternal Insertion: Phenotype and Association with Balanced Parental Rearrangement

Interstitial deletions of 3p14p12 are rare chromosome abnormalities. We present a patient with multiple congenital anomalies and a 15.4-Mb interstitial loss of chromosome 3p14p12 detected by chromosomal microarray (CMA). Our patient shared many phenotypic features with other reported cases involving...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Hajek, Catherine, Wang, Jia-Chi, Mahon, Loretta W., Martinez, Ariadna, Saitta, Sulagna C.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4862392/
https://ncbi.nlm.nih.gov/pubmed/27194973
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000444603
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