A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation

• Main Authors: Chih-Ping Chen (Author), Shuan-Pei Lin (Author), Schu-Rern Chern (Author), Peih-Shan Wu (Author), Jun-Wei Su (Author), Chen-Chi Lee (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2014-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To present an array comparative genomic hybridization (aCGH) characterization of a 12p11.22-p11.21 microdeletion and 22q11.2 microduplication in an adolescent girl with autism, mental retardation, facial dysmorphism, microcephaly, behavior problems, and an apparently balanced reciprocal t...