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

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 re...

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Autores principales: Chilakamarri, Lekha, Mellin‐Sanchez, Estrella Lizbeth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107916/
https://www.ncbi.nlm.nih.gov/pubmed/35600042
http://dx.doi.org/10.1002/ccr3.5835
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author Chilakamarri, Lekha
Mellin‐Sanchez, Estrella Lizbeth
author_facet Chilakamarri, Lekha
Mellin‐Sanchez, Estrella Lizbeth
author_sort Chilakamarri, Lekha
collection PubMed
description 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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spelling pubmed-91079162022-05-20 Complex chromosomal rearrangement involving 15q11‐q13 interstitial triplication and duplication: A new case report of dysmorphic and neuropsychiatric features Chilakamarri, Lekha Mellin‐Sanchez, Estrella Lizbeth Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2022-05-15 /pmc/articles/PMC9107916/ /pubmed/35600042 http://dx.doi.org/10.1002/ccr3.5835 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Chilakamarri, Lekha
Mellin‐Sanchez, Estrella Lizbeth
Complex chromosomal rearrangement involving 15q11‐q13 interstitial triplication and duplication: A new case report of dysmorphic and neuropsychiatric features
title Complex chromosomal rearrangement involving 15q11‐q13 interstitial triplication and duplication: A new case report of dysmorphic and neuropsychiatric features
title_full Complex chromosomal rearrangement involving 15q11‐q13 interstitial triplication and duplication: A new case report of dysmorphic and neuropsychiatric features
title_fullStr Complex chromosomal rearrangement involving 15q11‐q13 interstitial triplication and duplication: A new case report of dysmorphic and neuropsychiatric features
title_full_unstemmed Complex chromosomal rearrangement involving 15q11‐q13 interstitial triplication and duplication: A new case report of dysmorphic and neuropsychiatric features
title_short Complex chromosomal rearrangement involving 15q11‐q13 interstitial triplication and duplication: A new case report of dysmorphic and neuropsychiatric features
title_sort complex chromosomal rearrangement involving 15q11‐q13 interstitial triplication and duplication: a new case report of dysmorphic and neuropsychiatric features
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107916/
https://www.ncbi.nlm.nih.gov/pubmed/35600042
http://dx.doi.org/10.1002/ccr3.5835
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