Molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a 15-year-old boy with mental retardation, developmental delay, autism and congenital heart defects

• Main Authors: Chih-Ping Chen (Author), Schu-Rern Chern (Author), Peih-Shan Wu (Author), Shin-Wen Chen (Author), Fang-Tzu Wu (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2021-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We present molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a mentally retarded child of a family requesting for genetic counseling of the future pregnancy. Case report: A 43-year-old, gravida 1, para 1, woman, who had a 15-yea...