Open AccessComplex chromosomal rearrangement involving 15q11‐q13 interstitial triplication and duplication: A new case report of dysmorphic and neuropsychiatric features
Author(s) -
Chilakamarri Lekha,
MellinSanchez Estrella Lizbeth
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.5835
Subject(s) - gene duplication , medicine , angelman syndrome , tetrasomy , chromosomal rearrangement , genetics , chromosome , karyotype , biology , gene
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.