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

@article{Hajek2016InterstitialC3,
  title={Interstitial Chromosome 3p14.1 Deletion due to a Maternal Insertion: Phenotype and Association with Balanced Parental Rearrangement.},
  author={Catherine Hajek and Jia-Chi Wang and Loretta W Mahon and Ariadna Mart{\'i}nez and Sulagna C. Saitta},
  journal={Molecular syndromology},
  year={2016},
  volume={7 1},
  pages={
          43-8
        }
}
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 the same region including prominent forehead, short palpebral fissures, hand and foot anomalies, genital abnormalities, and bilateral hearing loss. Given the clinical similarity of these cases with… CONTINUE READING

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