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22q11.2 Deletion Syndrome due to a Translocation t(6;22) in a Patient Conceived via in vitro Fertilization

We report on a patient conceived via in vitro fertilization (IVF) with a 22q11.2 deletion due to an unusual unbalanced translocation involving chromosomes 6 and 22 in a karyotype with 45 chromosomes. Cytogenomic studies showed that the patient has a 3.3-Mb deletion of chromosome 22q and a 0.4-Mb del...

詳細記述

保存先:
書誌詳細
出版年:Mol Syndromol
主要な著者: Gollo Dantas, Anelisa, Bortolai, Adriana, Moysés-Oliveira, Mariana, Takeno Herrero, Sylvia, Azoubel Antunes, Adriana, Tavares Costa-Carvalho, Beatriz, Ayres Meloni, Vera, Melaragno, Maria Isabel
フォーマット: Artigo
言語:Inglês
出版事項: S. Karger AG 2016
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4772615/
https://ncbi.nlm.nih.gov/pubmed/26997945
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000441243
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