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...

Full description

Saved in:
Bibliographic Details
Published in:Mol Syndromol
Main Authors: Hajek, Catherine, Wang, Jia-Chi, Mahon, Loretta W., Martinez, Ariadna, Saitta, Sulagna C.
Format: Artigo
Language:Inglês
Published: S. Karger AG 2016
Subjects:
Novel Insights from Clinical Practice
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items