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

Chilakamarri Lekha | Zendy; MellinSanchez Estrella Lizbeth | Zendy

Open Access

Complex 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.

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