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

• Egile Nagusiak: Chih-Ping Chen (Egilea), Shuan-Pei Lin (Egilea), Schu-Rern Chern (Egilea), Peih-Shan Wu (Egilea), Jun-Wei Su (Egilea), Chen-Chi Lee (Egilea), Wayseen Wang (Egilea)
• Formatua: Liburua
• Argitaratua: Elsevier, 2014-03-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...