Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability

We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of verteb...

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Vydáno v:Mol Syndromol
Hlavní autoři: Gamba, Bruno F., Zechi-Ceide, Roseli M., Kokitsu-Nakata, Nancy M., Vendramini-Pittoli, Siulan, Rosenberg, Carla, Krepischi Santos, Ana C.V., Ribeiro-Bicudo, Lucilene, Richieri-Costa, Antonio
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2016
Témata:
Novel Insights from Clinical Practice
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5131332/
https://ncbi.nlm.nih.gov/pubmed/27920638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000450971
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