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

Lekha Chilakamarri; Estrella Lizbeth Mellin-Sanchez

doi:10.1002/ccr3.5835

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

Clin Case Rep. 2022 May 15;10(5):e05835. doi: 10.1002/ccr3.5835. eCollection 2022 May.

Authors

Lekha Chilakamarri¹, Estrella Lizbeth Mellin-Sanchez¹

Affiliation

¹ University of Texas Rio Grande Valley School of Medicine Edinburg Texas USA.

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.

Publication types

Case Reports