13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping

BACKGROUND: Retinoblastoma is a malignancy of the eye in children characterized by biallelic inactivation of the retinoblastoma 1 gene (RB1), located at chromosome 13q14.2. Children with interstitial chromosome 13q deletions that include the RB1 gene show a predisposition to develop retinoblastoma a...

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Vydáno v:Mol Cytogenet
Hlavní autoři: Dittner-Moormann, Sabine, Reschke, Madlen, Biewald, Eva, Kuechler, Alma, Klein, Barbara, Timmermann, Beate, Lohmann, Dietmar, Ketteler, Petra, Kanber, Deniz
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7379829/
https://ncbi.nlm.nih.gov/pubmed/32760450
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-020-00500-7
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