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Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family

Abstract Background Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion has been previously associated with developmental delay, mental retardation, epilepsy, autism, schizophrenia and congenital heart defect...

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Principais autores: Wenjuan Tang, Guowei Chen, Jingshu Xia, Ying Zhang
Format: Artigo
Jezik:Inglês
Izdano: BMC 2022-07-01
Serija:Molecular Cytogenetics
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Online dostop:https://doi.org/10.1186/s13039-022-00605-1
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