Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins

Wolf-Hirschhorn syndrome (WHS) is caused by a distal 4p monosomy usually involving the region of the WHSC1 and WHSC2 genes. About 40-45% of WHS patients show an unbalanced translocation leading to both 4p monosomy and partial trisomy of another chromosome arm. In this case report, we describe 2 fema...

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Bibliografski detalji
Izdano u:Mol Syndromol
Glavni autori: Mozer Joaquim, Tatiana, Paiva Grangeiro, Carlos H., Gaona de Oliveira Gennaro, Flávia, Galvão Gomes, Alexandra, Squire, Jeremy A., Martelli, Lucia R.
Format: Artigo
Jezik:Inglês
Izdano: S. Karger AG 2020
Teme:
Short Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6997792/
https://ncbi.nlm.nih.gov/pubmed/32021597
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000501923
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