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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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Mol Syndromol |
|---|---|
| Prif Awduron: | , , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
S. Karger AG
2020
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| Pynciau: | |
| Mynediad Ar-lein: | 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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