A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism.

摘要: Chromosome 15q11-q13.1 duplication is a common copy number variant associated with autism spectrum disorder (ASD). Most cases are de novo, maternal in origin and fully penetrant for ASD. Here we describe unique family an interstitial 15q11.2-q13.1 the presence of somatic mosaicism mother. She typically functioning, but formal testing showed mild had several congenital anomalies, she first 15q Duplication case reported literature to develop unilateral renal carcinoma. Her two affected children share some these clinical characteristics, have severe Several tissues mother, including blood, skin, kidney tumor, normal margin were studied duplication. We show mother has varying degrees. A growth competition assay types stem cells from individuals was also performed. Our results suggest that this chromosome may confer previously unknown advantage particular individual, not general population.