Complex chromosomal rearrangement involving 15q11‐q13 interstitial triplication and duplication: A new case report of dysmorphic and neuropsychiatric features

Abstract

Abstract Our patient is the first to encompass the full spectrum of reported features related to tetrasomy of the Prader–Willi Angelman Critical Region. She has a complex chromosomal rearrangement including an interstitial triplication reported in twelve cases till date and a rare interstitial duplication reported in only four cases till date.

Keywords

• 15q11‐q13 interstitial duplication
• 15q11‐q13 interstitial triplication
• array CGH
• autism spectrum disorder
• copy number variants
• under‐represented populations