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Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families

The phenotypic variability associated with 22q11.2 deletion syndrome (22q11.2DS) is well known. In the present study, the cases of three unrelated adult patients with chromosome 22q11.2DS and nearly normal features are described, along with their reproductive histories. Chromosomal analysis with flu...

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Detalles Bibliográficos
Autores principales: HUANG, LINHUAN, XIE, YINGJUN, ZHOU, YI, LUO, YANMIN, HUANG, XUAN, XU, ZHE, CAI, DANLEI, FANG, QUN
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4316895/
https://www.ncbi.nlm.nih.gov/pubmed/25667635
http://dx.doi.org/10.3892/etm.2015.2200